SNP Links for Protein (Select 69122473) - SNP

Select item 14866781391.

rs1486678139 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:44805435 (GRCh38)
17:42882803 (GRCh37)
Canonical SPDI:: NC_000017.11:44805434:T:C
Gene:: GJC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44805435T>C, NC_000017.10:g.42882803T>C, NM_005497.4:c.383A>G, NM_005497.3:c.383A>G, XR_934346.4:n.676A>G, XR_934346.3:n.653A>G, XR_934346.2:n.479A>G, XR_934346.1:n.479A>G, NM_001080383.2:c.383A>G, NM_001080383.1:c.383A>G, XM_024450527.2:c.383A>G, XM_024450527.1:c.383A>G, XM_047435077.1:c.383A>G, XM_024450526.1:c.383A>G, XM_047435080.1:c.383A>G, XM_047435079.1:c.383A>G, XM_047435078.1:c.383A>G, XR_007065255.1:n.781A>G, NP_005488.2:p.Glu128Gly, NP_001073852.1:p.Glu128Gly, XP_024306295.1:p.Glu128Gly, XP_047291033.1:p.Glu128Gly, XP_024306294.1:p.Glu128Gly, XP_047291036.1:p.Glu128Gly, XP_047291035.1:p.Glu128Gly, XP_047291034.1:p.Glu128Gly

Select item 14859261872.

rs1485926187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:44805422 (GRCh38)
17:42882790 (GRCh37)
Canonical SPDI:: NC_000017.11:44805421:C:G
Gene:: GJC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44805422C>G, NC_000017.10:g.42882790C>G, NM_005497.4:c.396G>C, NM_005497.3:c.396G>C, XR_934346.4:n.689G>C, XR_934346.3:n.666G>C, XR_934346.2:n.492G>C, XR_934346.1:n.492G>C, NM_001080383.2:c.396G>C, NM_001080383.1:c.396G>C, XM_024450527.2:c.396G>C, XM_024450527.1:c.396G>C, XM_047435077.1:c.396G>C, XM_024450526.1:c.396G>C, XM_047435080.1:c.396G>C, XM_047435079.1:c.396G>C, XM_047435078.1:c.396G>C, XR_007065255.1:n.794G>C, NP_005488.2:p.Glu132Asp, NP_001073852.1:p.Glu132Asp, XP_024306295.1:p.Glu132Asp, XP_047291033.1:p.Glu132Asp, XP_024306294.1:p.Glu132Asp, XP_047291036.1:p.Glu132Asp, XP_047291035.1:p.Glu132Asp, XP_047291034.1:p.Glu132Asp

Select item 14836651073.

rs1483665107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44805215 (GRCh38)
17:42882583 (GRCh37)
Canonical SPDI:: NC_000017.11:44805214:G:A
Gene:: GJC1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.44805215G>A, NC_000017.10:g.42882583G>A, NM_005497.4:c.603C>T, NM_005497.3:c.603C>T, XR_934346.4:n.896C>T, XR_934346.3:n.873C>T, XR_934346.2:n.699C>T, XR_934346.1:n.699C>T, NM_001080383.2:c.603C>T, NM_001080383.1:c.603C>T, XM_024450527.2:c.603C>T, XM_024450527.1:c.603C>T, XM_047435077.1:c.603C>T, XM_024450526.1:c.603C>T, XM_047435080.1:c.603C>T, XM_047435079.1:c.603C>T, XM_047435078.1:c.603C>T, XR_007065255.1:n.1001C>T

Select item 14749374664.

rs1474937466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44804795 (GRCh38)
17:42882163 (GRCh37)
Canonical SPDI:: NC_000017.11:44804794:C:T
Gene:: GJC1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44804795C>T, NC_000017.10:g.42882163C>T, NM_005497.4:c.1023G>A, NM_005497.3:c.1023G>A, XR_934346.4:n.1316G>A, XR_934346.3:n.1293G>A, XR_934346.2:n.1119G>A, XR_934346.1:n.1119G>A, NM_001080383.2:c.1023G>A, NM_001080383.1:c.1023G>A, XM_024450527.2:c.1023G>A, XM_024450527.1:c.1023G>A, XM_047435077.1:c.1023G>A, XM_024450526.1:c.1023G>A, XM_047435080.1:c.1023G>A, XM_047435079.1:c.1023G>A, XM_047435078.1:c.1023G>A, XR_007065255.1:n.1421G>A

Select item 14692141465.

rs1469214146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:44805618 (GRCh38)
17:42882986 (GRCh37)
Canonical SPDI:: NC_000017.11:44805617:G:A,NC_000017.11:44805617:G:C
Gene:: GJC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.44805618G>A, NC_000017.11:g.44805618G>C, NC_000017.10:g.42882986G>A, NC_000017.10:g.42882986G>C, NM_005497.4:c.200C>T, NM_005497.4:c.200C>G, NM_005497.3:c.200C>T, NM_005497.3:c.200C>G, XR_934346.4:n.493C>T, XR_934346.4:n.493C>G, XR_934346.3:n.470C>T, XR_934346.3:n.470C>G, XR_934346.2:n.296C>T, XR_934346.2:n.296C>G, XR_934346.1:n.296C>T, XR_934346.1:n.296C>G, NM_001080383.2:c.200C>T, NM_001080383.2:c.200C>G, NM_001080383.1:c.200C>T, NM_001080383.1:c.200C>G, XM_024450527.2:c.200C>T, XM_024450527.2:c.200C>G, XM_024450527.1:c.200C>T, XM_024450527.1:c.200C>G, XM_047435077.1:c.200C>T, XM_047435077.1:c.200C>G, XM_024450526.1:c.200C>T, XM_024450526.1:c.200C>G, XM_047435080.1:c.200C>T, XM_047435080.1:c.200C>G, XM_047435079.1:c.200C>T, XM_047435079.1:c.200C>G, XM_047435078.1:c.200C>T, XM_047435078.1:c.200C>G, XR_007065255.1:n.598C>T, XR_007065255.1:n.598C>G, NP_005488.2:p.Ala67Val, NP_005488.2:p.Ala67Gly, NP_001073852.1:p.Ala67Val, NP_001073852.1:p.Ala67Gly, XP_024306295.1:p.Ala67Val, XP_024306295.1:p.Ala67Gly, XP_047291033.1:p.Ala67Val, XP_047291033.1:p.Ala67Gly, XP_024306294.1:p.Ala67Val, XP_024306294.1:p.Ala67Gly, XP_047291036.1:p.Ala67Val, XP_047291036.1:p.Ala67Gly, XP_047291035.1:p.Ala67Val, XP_047291035.1:p.Ala67Gly, XP_047291034.1:p.Ala67Val, XP_047291034.1:p.Ala67Gly

Select item 14690047496.

rs1469004749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44804688 (GRCh38)
17:42882056 (GRCh37)
Canonical SPDI:: NC_000017.11:44804687:C:T
Gene:: GJC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44804688C>T, NC_000017.10:g.42882056C>T, NM_005497.4:c.1130G>A, NM_005497.3:c.1130G>A, XR_934346.4:n.1423G>A, XR_934346.3:n.1400G>A, XR_934346.2:n.1226G>A, XR_934346.1:n.1226G>A, NM_001080383.2:c.1130G>A, NM_001080383.1:c.1130G>A, XM_024450527.2:c.1130G>A, XM_024450527.1:c.1130G>A, XM_047435077.1:c.1130G>A, XM_024450526.1:c.1130G>A, XM_047435080.1:c.1130G>A, XM_047435079.1:c.1130G>A, XM_047435078.1:c.1130G>A, XR_007065255.1:n.1528G>A, NP_005488.2:p.Gly377Glu, NP_001073852.1:p.Gly377Glu, XP_024306295.1:p.Gly377Glu, XP_047291033.1:p.Gly377Glu, XP_024306294.1:p.Gly377Glu, XP_047291036.1:p.Gly377Glu, XP_047291035.1:p.Gly377Glu, XP_047291034.1:p.Gly377Glu

Select item 14607375737.

rs1460737573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:44805694 (GRCh38)
17:42883062 (GRCh37)
Canonical SPDI:: NC_000017.11:44805693:A:T
Gene:: GJC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44805694A>T, NC_000017.10:g.42883062A>T, NM_005497.4:c.124T>A, NM_005497.3:c.124T>A, XR_934346.4:n.417T>A, XR_934346.3:n.394T>A, XR_934346.2:n.220T>A, XR_934346.1:n.220T>A, NM_001080383.2:c.124T>A, NM_001080383.1:c.124T>A, XM_024450527.2:c.124T>A, XM_024450527.1:c.124T>A, XM_047435077.1:c.124T>A, XM_024450526.1:c.124T>A, XM_047435080.1:c.124T>A, XM_047435079.1:c.124T>A, XM_047435078.1:c.124T>A, XR_007065255.1:n.522T>A, NP_005488.2:p.Ser42Thr, NP_001073852.1:p.Ser42Thr, XP_024306295.1:p.Ser42Thr, XP_047291033.1:p.Ser42Thr, XP_024306294.1:p.Ser42Thr, XP_047291036.1:p.Ser42Thr, XP_047291035.1:p.Ser42Thr, XP_047291034.1:p.Ser42Thr

Select item 14551219188.

rs1455121918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:44805508 (GRCh38)
17:42882876 (GRCh37)
Canonical SPDI:: NC_000017.11:44805507:G:A,NC_000017.11:44805507:G:C,NC_000017.11:44805507:G:T
Gene:: GJC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44805508G>A, NC_000017.11:g.44805508G>C, NC_000017.11:g.44805508G>T, NC_000017.10:g.42882876G>A, NC_000017.10:g.42882876G>C, NC_000017.10:g.42882876G>T, NM_005497.4:c.310C>T, NM_005497.4:c.310C>G, NM_005497.4:c.310C>A, NM_005497.3:c.310C>T, NM_005497.3:c.310C>G, NM_005497.3:c.310C>A, XR_934346.4:n.603C>T, XR_934346.4:n.603C>G, XR_934346.4:n.603C>A, XR_934346.3:n.580C>T, XR_934346.3:n.580C>G, XR_934346.3:n.580C>A, XR_934346.2:n.406C>T, XR_934346.2:n.406C>G, XR_934346.2:n.406C>A, XR_934346.1:n.406C>T, XR_934346.1:n.406C>G, XR_934346.1:n.406C>A, NM_001080383.2:c.310C>T, NM_001080383.2:c.310C>G, NM_001080383.2:c.310C>A, NM_001080383.1:c.310C>T, NM_001080383.1:c.310C>G, NM_001080383.1:c.310C>A, XM_024450527.2:c.310C>T, XM_024450527.2:c.310C>G, XM_024450527.2:c.310C>A, XM_024450527.1:c.310C>T, XM_024450527.1:c.310C>G, XM_024450527.1:c.310C>A, XM_047435077.1:c.310C>T, XM_047435077.1:c.310C>G, XM_047435077.1:c.310C>A, XM_024450526.1:c.310C>T, XM_024450526.1:c.310C>G, XM_024450526.1:c.310C>A, XM_047435080.1:c.310C>T, XM_047435080.1:c.310C>G, XM_047435080.1:c.310C>A, XM_047435079.1:c.310C>T, XM_047435079.1:c.310C>G, XM_047435079.1:c.310C>A, XM_047435078.1:c.310C>T, XM_047435078.1:c.310C>G, XM_047435078.1:c.310C>A, XR_007065255.1:n.708C>T, XR_007065255.1:n.708C>G, XR_007065255.1:n.708C>A, NP_005488.2:p.His104Tyr, NP_005488.2:p.His104Asp, NP_005488.2:p.His104Asn, NP_001073852.1:p.His104Tyr, NP_001073852.1:p.His104Asp, NP_001073852.1:p.His104Asn, XP_024306295.1:p.His104Tyr, XP_024306295.1:p.His104Asp, XP_024306295.1:p.His104Asn, XP_047291033.1:p.His104Tyr, XP_047291033.1:p.His104Asp, XP_047291033.1:p.His104Asn, XP_024306294.1:p.His104Tyr, XP_024306294.1:p.His104Asp, XP_024306294.1:p.His104Asn, XP_047291036.1:p.His104Tyr, XP_047291036.1:p.His104Asp, XP_047291036.1:p.His104Asn, XP_047291035.1:p.His104Tyr, XP_047291035.1:p.His104Asp, XP_047291035.1:p.His104Asn, XP_047291034.1:p.His104Tyr, XP_047291034.1:p.His104Asp, XP_047291034.1:p.His104Asn

Select item 14506680939.

rs1450668093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44805602 (GRCh38)
17:42882970 (GRCh37)
Canonical SPDI:: NC_000017.11:44805601:G:A
Gene:: GJC1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.44805602G>A, NC_000017.10:g.42882970G>A, NM_005497.4:c.216C>T, NM_005497.3:c.216C>T, XR_934346.4:n.509C>T, XR_934346.3:n.486C>T, XR_934346.2:n.312C>T, XR_934346.1:n.312C>T, NM_001080383.2:c.216C>T, NM_001080383.1:c.216C>T, XM_024450527.2:c.216C>T, XM_024450527.1:c.216C>T, XM_047435077.1:c.216C>T, XM_024450526.1:c.216C>T, XM_047435080.1:c.216C>T, XM_047435079.1:c.216C>T, XM_047435078.1:c.216C>T, XR_007065255.1:n.614C>T

Select item 145012397410.

rs1450123974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:44804741 (GRCh38)
17:42882109 (GRCh37)
Canonical SPDI:: NC_000017.11:44804740:T:C
Gene:: GJC1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44804741T>C, NC_000017.10:g.42882109T>C, NM_005497.4:c.1077A>G, NM_005497.3:c.1077A>G, XR_934346.4:n.1370A>G, XR_934346.3:n.1347A>G, XR_934346.2:n.1173A>G, XR_934346.1:n.1173A>G, NM_001080383.2:c.1077A>G, NM_001080383.1:c.1077A>G, XM_024450527.2:c.1077A>G, XM_024450527.1:c.1077A>G, XM_047435077.1:c.1077A>G, XM_024450526.1:c.1077A>G, XM_047435080.1:c.1077A>G, XM_047435079.1:c.1077A>G, XM_047435078.1:c.1077A>G, XR_007065255.1:n.1475A>G

Select item 144947365811.

rs1449473658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44805711 (GRCh38)
17:42883079 (GRCh37)
Canonical SPDI:: NC_000017.11:44805710:G:A
Gene:: GJC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000071/1 (TOMMO)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.44805711G>A, NC_000017.10:g.42883079G>A, NM_005497.4:c.107C>T, NM_005497.3:c.107C>T, XR_934346.4:n.400C>T, XR_934346.3:n.377C>T, XR_934346.2:n.203C>T, XR_934346.1:n.203C>T, NM_001080383.2:c.107C>T, NM_001080383.1:c.107C>T, XM_024450527.2:c.107C>T, XM_024450527.1:c.107C>T, XM_047435077.1:c.107C>T, XM_024450526.1:c.107C>T, XM_047435080.1:c.107C>T, XM_047435079.1:c.107C>T, XM_047435078.1:c.107C>T, XR_007065255.1:n.505C>T, NP_005488.2:p.Thr36Ile, NP_001073852.1:p.Thr36Ile, XP_024306295.1:p.Thr36Ile, XP_047291033.1:p.Thr36Ile, XP_024306294.1:p.Thr36Ile, XP_047291036.1:p.Thr36Ile, XP_047291035.1:p.Thr36Ile, XP_047291034.1:p.Thr36Ile

Select item 144785877212.

rs1447858772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44804915 (GRCh38)
17:42882283 (GRCh37)
Canonical SPDI:: NC_000017.11:44804914:G:A
Gene:: GJC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44804915G>A, NC_000017.10:g.42882283G>A, NM_005497.4:c.903C>T, NM_005497.3:c.903C>T, XR_934346.4:n.1196C>T, XR_934346.3:n.1173C>T, XR_934346.2:n.999C>T, XR_934346.1:n.999C>T, NM_001080383.2:c.903C>T, NM_001080383.1:c.903C>T, XM_024450527.2:c.903C>T, XM_024450527.1:c.903C>T, XM_047435077.1:c.903C>T, XM_024450526.1:c.903C>T, XM_047435080.1:c.903C>T, XM_047435079.1:c.903C>T, XM_047435078.1:c.903C>T, XR_007065255.1:n.1301C>T

Select item 144281659113.

rs1442816591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:44805706 (GRCh38)
17:42883074 (GRCh37)
Canonical SPDI:: NC_000017.11:44805705:C:G,NC_000017.11:44805705:C:T
Gene:: GJC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44805706C>G, NC_000017.11:g.44805706C>T, NC_000017.10:g.42883074C>G, NC_000017.10:g.42883074C>T, NM_005497.4:c.112G>C, NM_005497.4:c.112G>A, NM_005497.3:c.112G>C, NM_005497.3:c.112G>A, XR_934346.4:n.405G>C, XR_934346.4:n.405G>A, XR_934346.3:n.382G>C, XR_934346.3:n.382G>A, XR_934346.2:n.208G>C, XR_934346.2:n.208G>A, XR_934346.1:n.208G>C, XR_934346.1:n.208G>A, NM_001080383.2:c.112G>C, NM_001080383.2:c.112G>A, NM_001080383.1:c.112G>C, NM_001080383.1:c.112G>A, XM_024450527.2:c.112G>C, XM_024450527.2:c.112G>A, XM_024450527.1:c.112G>C, XM_024450527.1:c.112G>A, XM_047435077.1:c.112G>C, XM_047435077.1:c.112G>A, XM_024450526.1:c.112G>C, XM_024450526.1:c.112G>A, XM_047435080.1:c.112G>C, XM_047435080.1:c.112G>A, XM_047435079.1:c.112G>C, XM_047435079.1:c.112G>A, XM_047435078.1:c.112G>C, XM_047435078.1:c.112G>A, XR_007065255.1:n.510G>C, XR_007065255.1:n.510G>A, NP_005488.2:p.Val38Leu, NP_005488.2:p.Val38Ile, NP_001073852.1:p.Val38Leu, NP_001073852.1:p.Val38Ile, XP_024306295.1:p.Val38Leu, XP_024306295.1:p.Val38Ile, XP_047291033.1:p.Val38Leu, XP_047291033.1:p.Val38Ile, XP_024306294.1:p.Val38Leu, XP_024306294.1:p.Val38Ile, XP_047291036.1:p.Val38Leu, XP_047291036.1:p.Val38Ile, XP_047291035.1:p.Val38Leu, XP_047291035.1:p.Val38Ile, XP_047291034.1:p.Val38Leu, XP_047291034.1:p.Val38Ile

Select item 144011649314.

rs1440116493 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:44805742 (GRCh38)
17:42883110 (GRCh37)
Canonical SPDI:: NC_000017.11:44805741:T:C
Gene:: GJC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44805742T>C, NC_000017.10:g.42883110T>C, NM_005497.4:c.76A>G, NM_005497.3:c.76A>G, XR_934346.4:n.369A>G, XR_934346.3:n.346A>G, XR_934346.2:n.172A>G, XR_934346.1:n.172A>G, NM_001080383.2:c.76A>G, NM_001080383.1:c.76A>G, XM_024450527.2:c.76A>G, XM_024450527.1:c.76A>G, XM_047435077.1:c.76A>G, XM_024450526.1:c.76A>G, XM_047435080.1:c.76A>G, XM_047435079.1:c.76A>G, XM_047435078.1:c.76A>G, XR_007065255.1:n.474A>G, NP_005488.2:p.Thr26Ala, NP_001073852.1:p.Thr26Ala, XP_024306295.1:p.Thr26Ala, XP_047291033.1:p.Thr26Ala, XP_024306294.1:p.Thr26Ala, XP_047291036.1:p.Thr26Ala, XP_047291035.1:p.Thr26Ala, XP_047291034.1:p.Thr26Ala

Select item 143708467215.

rs1437084672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:44805382 (GRCh38)
17:42882750 (GRCh37)
Canonical SPDI:: NC_000017.11:44805381:A:T
Gene:: GJC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.44805382A>T, NC_000017.10:g.42882750A>T, NM_005497.4:c.436T>A, NM_005497.3:c.436T>A, XR_934346.4:n.729T>A, XR_934346.3:n.706T>A, XR_934346.2:n.532T>A, XR_934346.1:n.532T>A, NM_001080383.2:c.436T>A, NM_001080383.1:c.436T>A, XM_024450527.2:c.436T>A, XM_024450527.1:c.436T>A, XM_047435077.1:c.436T>A, XM_024450526.1:c.436T>A, XM_047435080.1:c.436T>A, XM_047435079.1:c.436T>A, XM_047435078.1:c.436T>A, XR_007065255.1:n.834T>A, NP_005488.2:p.Leu146Ile, NP_001073852.1:p.Leu146Ile, XP_024306295.1:p.Leu146Ile, XP_047291033.1:p.Leu146Ile, XP_024306294.1:p.Leu146Ile, XP_047291036.1:p.Leu146Ile, XP_047291035.1:p.Leu146Ile, XP_047291034.1:p.Leu146Ile

Select item 143589800716.

rs1435898007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:44805697 (GRCh38)
17:42883065 (GRCh37)
Canonical SPDI:: NC_000017.11:44805696:C:A
Gene:: GJC1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.44805697C>A, NC_000017.10:g.42883065C>A, NM_005497.4:c.121G>T, NM_005497.3:c.121G>T, XR_934346.4:n.414G>T, XR_934346.3:n.391G>T, XR_934346.2:n.217G>T, XR_934346.1:n.217G>T, NM_001080383.2:c.121G>T, NM_001080383.1:c.121G>T, XM_024450527.2:c.121G>T, XM_024450527.1:c.121G>T, XM_047435077.1:c.121G>T, XM_024450526.1:c.121G>T, XM_047435080.1:c.121G>T, XM_047435079.1:c.121G>T, XM_047435078.1:c.121G>T, XR_007065255.1:n.519G>T, NP_005488.2:p.Glu41Ter, NP_001073852.1:p.Glu41Ter, XP_024306295.1:p.Glu41Ter, XP_047291033.1:p.Glu41Ter, XP_024306294.1:p.Glu41Ter, XP_047291036.1:p.Glu41Ter, XP_047291035.1:p.Glu41Ter, XP_047291034.1:p.Glu41Ter

Select item 143271592717.

rs1432715927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:44804948 (GRCh38)
17:42882316 (GRCh37)
Canonical SPDI:: NC_000017.11:44804947:A:G
Gene:: GJC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.44804948A>G, NC_000017.10:g.42882316A>G, NM_005497.4:c.870T>C, NM_005497.3:c.870T>C, XR_934346.4:n.1163T>C, XR_934346.3:n.1140T>C, XR_934346.2:n.966T>C, XR_934346.1:n.966T>C, NM_001080383.2:c.870T>C, NM_001080383.1:c.870T>C, XM_024450527.2:c.870T>C, XM_024450527.1:c.870T>C, XM_047435077.1:c.870T>C, XM_024450526.1:c.870T>C, XM_047435080.1:c.870T>C, XM_047435079.1:c.870T>C, XM_047435078.1:c.870T>C, XR_007065255.1:n.1268T>C

Select item 143108260918.

rs1431082609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:44804936 (GRCh38)
17:42882304 (GRCh37)
Canonical SPDI:: NC_000017.11:44804935:G:A,NC_000017.11:44804935:G:C
Gene:: GJC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.44804936G>A, NC_000017.11:g.44804936G>C, NC_000017.10:g.42882304G>A, NC_000017.10:g.42882304G>C, NM_005497.4:c.882C>T, NM_005497.4:c.882C>G, NM_005497.3:c.882C>T, NM_005497.3:c.882C>G, XR_934346.4:n.1175C>T, XR_934346.4:n.1175C>G, XR_934346.3:n.1152C>T, XR_934346.3:n.1152C>G, XR_934346.2:n.978C>T, XR_934346.2:n.978C>G, XR_934346.1:n.978C>T, XR_934346.1:n.978C>G, NM_001080383.2:c.882C>T, NM_001080383.2:c.882C>G, NM_001080383.1:c.882C>T, NM_001080383.1:c.882C>G, XM_024450527.2:c.882C>T, XM_024450527.2:c.882C>G, XM_024450527.1:c.882C>T, XM_024450527.1:c.882C>G, XM_047435077.1:c.882C>T, XM_047435077.1:c.882C>G, XM_024450526.1:c.882C>T, XM_024450526.1:c.882C>G, XM_047435080.1:c.882C>T, XM_047435080.1:c.882C>G, XM_047435079.1:c.882C>T, XM_047435079.1:c.882C>G, XM_047435078.1:c.882C>T, XM_047435078.1:c.882C>G, XR_007065255.1:n.1280C>T, XR_007065255.1:n.1280C>G

Select item 143053178419.

rs1430531784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44805409 (GRCh38)
17:42882777 (GRCh37)
Canonical SPDI:: NC_000017.11:44805408:C:T
Gene:: GJC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44805409C>T, NC_000017.10:g.42882777C>T, NM_005497.4:c.409G>A, NM_005497.3:c.409G>A, XR_934346.4:n.702G>A, XR_934346.3:n.679G>A, XR_934346.2:n.505G>A, XR_934346.1:n.505G>A, NM_001080383.2:c.409G>A, NM_001080383.1:c.409G>A, XM_024450527.2:c.409G>A, XM_024450527.1:c.409G>A, XM_047435077.1:c.409G>A, XM_024450526.1:c.409G>A, XM_047435080.1:c.409G>A, XM_047435079.1:c.409G>A, XM_047435078.1:c.409G>A, XR_007065255.1:n.807G>A, NP_005488.2:p.Asp137Asn, NP_001073852.1:p.Asp137Asn, XP_024306295.1:p.Asp137Asn, XP_047291033.1:p.Asp137Asn, XP_024306294.1:p.Asp137Asn, XP_047291036.1:p.Asp137Asn, XP_047291035.1:p.Asp137Asn, XP_047291034.1:p.Asp137Asn

Select item 142537267320.

rs1425372673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44805274 (GRCh38)
17:42882642 (GRCh37)
Canonical SPDI:: NC_000017.11:44805273:G:A
Gene:: GJC1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44805274G>A, NC_000017.10:g.42882642G>A, NM_005497.4:c.544C>T, NM_005497.3:c.544C>T, XR_934346.4:n.837C>T, XR_934346.3:n.814C>T, XR_934346.2:n.640C>T, XR_934346.1:n.640C>T, NM_001080383.2:c.544C>T, NM_001080383.1:c.544C>T, XM_024450527.2:c.544C>T, XM_024450527.1:c.544C>T, XM_047435077.1:c.544C>T, XM_024450526.1:c.544C>T, XM_047435080.1:c.544C>T, XM_047435079.1:c.544C>T, XM_047435078.1:c.544C>T, XR_007065255.1:n.942C>T

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dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 276

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