SNP Links for Protein (Select 166362713) - SNP

Links from Protein

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Select item 14880433371.

rs1488043337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:66386860 (GRCh38)
16:66420763 (GRCh37)
Canonical SPDI:: NC_000016.10:66386859:T:A
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66386860T>A, NC_000016.9:g.66420763T>A, NM_001795.5:c.262T>A, NM_001795.4:c.262T>A, NM_001795.3:c.262T>A, XM_011522801.3:c.262T>A, XM_011522801.2:c.262T>A, XM_011522801.1:c.262T>A, XM_047433470.1:c.262T>A, XM_047433469.1:c.262T>A, XM_047433471.1:c.262T>A, NM_001114117.1:c.262T>A, NP_001786.2:p.Tyr88Asn, XP_011521103.1:p.Tyr88Asn, XP_047289426.1:p.Tyr88Asn, XP_047289425.1:p.Tyr88Asn, XP_047289427.1:p.Tyr88Asn

Select item 14879150542.

rs1487915054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:66400944 (GRCh38)
16:66434847 (GRCh37)
Canonical SPDI:: NC_000016.10:66400943:G:A,NC_000016.10:66400943:G:T
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000016.10:g.66400944G>A, NC_000016.10:g.66400944G>T, NC_000016.9:g.66434847G>A, NC_000016.9:g.66434847G>T, NM_001795.5:c.1765G>A, NM_001795.5:c.1765G>T, NM_001795.4:c.1765G>A, NM_001795.4:c.1765G>T, NM_001795.3:c.1765G>A, NM_001795.3:c.1765G>T, XM_011522801.3:c.1792G>A, XM_011522801.3:c.1792G>T, XM_011522801.2:c.1792G>A, XM_011522801.2:c.1792G>T, XM_011522801.1:c.1792G>A, XM_011522801.1:c.1792G>T, XM_047433470.1:c.1792G>A, XM_047433470.1:c.1792G>T, XM_047433469.1:c.1792G>A, XM_047433469.1:c.1792G>T, XM_047433471.1:c.1765G>A, XM_047433471.1:c.1765G>T, NM_001114117.1:c.1420G>A, NM_001114117.1:c.1420G>T, NP_001786.2:p.Asp589Asn, NP_001786.2:p.Asp589Tyr, XP_011521103.1:p.Asp598Asn, XP_011521103.1:p.Asp598Tyr, XP_047289426.1:p.Asp598Asn, XP_047289426.1:p.Asp598Tyr, XP_047289425.1:p.Asp598Asn, XP_047289425.1:p.Asp598Tyr, XP_047289427.1:p.Asp589Asn, XP_047289427.1:p.Asp589Tyr

Select item 14878926453.

rs1487892645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:66402687 (GRCh38)
16:66436590 (GRCh37)
Canonical SPDI:: NC_000016.10:66402686:C:A,NC_000016.10:66402686:C:T
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66402687C>A, NC_000016.10:g.66402687C>T, NC_000016.9:g.66436590C>A, NC_000016.9:g.66436590C>T, NM_001795.5:c.1873C>A, NM_001795.5:c.1873C>T, NM_001795.4:c.1873C>A, NM_001795.4:c.1873C>T, NM_001795.3:c.1873C>A, NM_001795.3:c.1873C>T, XM_011522801.3:c.1900C>A, XM_011522801.3:c.1900C>T, XM_011522801.2:c.1900C>A, XM_011522801.2:c.1900C>T, XM_011522801.1:c.1900C>A, XM_011522801.1:c.1900C>T, XM_047433470.1:c.1900C>A, XM_047433470.1:c.1900C>T, XM_047433469.1:c.1900C>A, XM_047433469.1:c.1900C>T, XM_047433471.1:c.1873C>A, XM_047433471.1:c.1873C>T, NM_001114117.1:c.1528C>A, NM_001114117.1:c.1528C>T, NP_001786.2:p.Arg625Trp, XP_011521103.1:p.Arg634Trp, XP_047289426.1:p.Arg634Trp, XP_047289425.1:p.Arg634Trp, XP_047289427.1:p.Arg625Trp

Select item 14858750154.

rs1485875015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:66392181 (GRCh38)
16:66426084 (GRCh37)
Canonical SPDI:: NC_000016.10:66392180:G:A,NC_000016.10:66392180:G:T
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66392181G>A, NC_000016.10:g.66392181G>T, NC_000016.9:g.66426084G>A, NC_000016.9:g.66426084G>T, NM_001795.5:c.1015G>A, NM_001795.5:c.1015G>T, NM_001795.4:c.1015G>A, NM_001795.4:c.1015G>T, NM_001795.3:c.1015G>A, NM_001795.3:c.1015G>T, XM_011522801.3:c.1042G>A, XM_011522801.3:c.1042G>T, XM_011522801.2:c.1042G>A, XM_011522801.2:c.1042G>T, XM_011522801.1:c.1042G>A, XM_011522801.1:c.1042G>T, XM_047433470.1:c.1042G>A, XM_047433470.1:c.1042G>T, XM_047433469.1:c.1042G>A, XM_047433469.1:c.1042G>T, XM_047433471.1:c.1015G>A, XM_047433471.1:c.1015G>T, NM_001114117.1:c.1015G>A, NM_001114117.1:c.1015G>T, NP_001786.2:p.Ala339Thr, NP_001786.2:p.Ala339Ser, XP_011521103.1:p.Ala348Thr, XP_011521103.1:p.Ala348Ser, XP_047289426.1:p.Ala348Thr, XP_047289426.1:p.Ala348Ser, XP_047289425.1:p.Ala348Thr, XP_047289425.1:p.Ala348Ser, XP_047289427.1:p.Ala339Thr, XP_047289427.1:p.Ala339Ser

Select item 14844294705.

rs1484429470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:66388428 (GRCh38)
16:66422331 (GRCh37)
Canonical SPDI:: NC_000016.10:66388427:A:G
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.66388428A>G, NC_000016.9:g.66422331A>G, NM_001795.5:c.604A>G, NM_001795.4:c.604A>G, NM_001795.3:c.604A>G, XM_011522801.3:c.604A>G, XM_011522801.2:c.604A>G, XM_011522801.1:c.604A>G, XM_047433470.1:c.604A>G, XM_047433469.1:c.604A>G, XM_047433471.1:c.604A>G, NM_001114117.1:c.604A>G, NP_001786.2:p.Ile202Val, XP_011521103.1:p.Ile202Val, XP_047289426.1:p.Ile202Val, XP_047289425.1:p.Ile202Val, XP_047289427.1:p.Ile202Val

Select item 14840869956.

rs1484086995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66402836 (GRCh38)
16:66436739 (GRCh37)
Canonical SPDI:: NC_000016.10:66402835:G:A
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66402836G>A, NC_000016.9:g.66436739G>A, NM_001795.5:c.2022G>A, NM_001795.4:c.2022G>A, NM_001795.3:c.2022G>A, XM_011522801.3:c.2049G>A, XM_011522801.2:c.2049G>A, XM_011522801.1:c.2049G>A, XM_047433470.1:c.2049G>A, XM_047433469.1:c.2049G>A, XM_047433471.1:c.2022G>A, NM_001114117.1:c.1677G>A

Select item 14821464897.

rs1482146489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:66379347 (GRCh38)
16:66413250 (GRCh37)
Canonical SPDI:: NC_000016.10:66379346:C:G,NC_000016.10:66379346:C:T
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66379347C>G, NC_000016.10:g.66379347C>T, NC_000016.9:g.66413250C>G, NC_000016.9:g.66413250C>T, NM_001795.5:c.10C>G, NM_001795.5:c.10C>T, NM_001795.4:c.10C>G, NM_001795.4:c.10C>T, NM_001795.3:c.10C>G, NM_001795.3:c.10C>T, XM_011522801.3:c.10C>G, XM_011522801.3:c.10C>T, XM_011522801.2:c.10C>G, XM_011522801.2:c.10C>T, XM_011522801.1:c.10C>G, XM_011522801.1:c.10C>T, XM_047433470.1:c.10C>G, XM_047433470.1:c.10C>T, XM_047433469.1:c.10C>G, XM_047433469.1:c.10C>T, XM_047433471.1:c.10C>G, XM_047433471.1:c.10C>T, NM_001114117.1:c.10C>G, NM_001114117.1:c.10C>T, NP_001786.2:p.Leu4Val, NP_001786.2:p.Leu4Phe, XP_011521103.1:p.Leu4Val, XP_011521103.1:p.Leu4Phe, XP_047289426.1:p.Leu4Val, XP_047289426.1:p.Leu4Phe, XP_047289425.1:p.Leu4Val, XP_047289425.1:p.Leu4Phe, XP_047289427.1:p.Leu4Val, XP_047289427.1:p.Leu4Phe

Select item 14817516398.

rs1481751639 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:66379342 (GRCh38)
16:66413245 (GRCh37)
Canonical SPDI:: NC_000016.10:66379341:A:G
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.66379342A>G, NC_000016.9:g.66413245A>G, NM_001795.5:c.5A>G, NM_001795.4:c.5A>G, NM_001795.3:c.5A>G, XM_011522801.3:c.5A>G, XM_011522801.2:c.5A>G, XM_011522801.1:c.5A>G, XM_047433470.1:c.5A>G, XM_047433469.1:c.5A>G, XM_047433471.1:c.5A>G, NM_001114117.1:c.5A>G, NP_001786.2:p.Gln2Arg, XP_011521103.1:p.Gln2Arg, XP_047289426.1:p.Gln2Arg, XP_047289425.1:p.Gln2Arg, XP_047289427.1:p.Gln2Arg

Select item 14798862729.

rs1479886272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:66389479 (GRCh38)
16:66423382 (GRCh37)
Canonical SPDI:: NC_000016.10:66389478:C:A
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.66389479C>A, NC_000016.9:g.66423382C>A, NM_001795.5:c.738C>A, NM_001795.4:c.738C>A, NM_001795.3:c.738C>A, XM_011522801.3:c.738C>A, XM_011522801.2:c.738C>A, XM_011522801.1:c.738C>A, XM_047433470.1:c.738C>A, XM_047433469.1:c.738C>A, XM_047433471.1:c.738C>A, NM_001114117.1:c.738C>A

Select item 147877599010.

rs1478775990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:66386838 (GRCh38)
16:66420741 (GRCh37)
Canonical SPDI:: NC_000016.10:66386837:C:A
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66386838C>A, NC_000016.9:g.66420741C>A, NM_001795.5:c.240C>A, NM_001795.4:c.240C>A, NM_001795.3:c.240C>A, XM_011522801.3:c.240C>A, XM_011522801.2:c.240C>A, XM_011522801.1:c.240C>A, XM_047433470.1:c.240C>A, XM_047433469.1:c.240C>A, XM_047433471.1:c.240C>A, NM_001114117.1:c.240C>A

Select item 147856301311.

rs1478563013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:66403044 (GRCh38)
16:66436947 (GRCh37)
Canonical SPDI:: NC_000016.10:66403043:A:G
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66403044A>G, NC_000016.9:g.66436947A>G, NM_001795.5:c.2230A>G, NM_001795.4:c.2230A>G, NM_001795.3:c.2230A>G, XM_011522801.3:c.2257A>G, XM_011522801.2:c.2257A>G, XM_011522801.1:c.2257A>G, XM_047433470.1:c.2257A>G, XM_047433469.1:c.2257A>G, XM_047433471.1:c.2230A>G, NM_001114117.1:c.1885A>G, NP_001786.2:p.Ser744Gly, XP_011521103.1:p.Ser753Gly, XP_047289426.1:p.Ser753Gly, XP_047289425.1:p.Ser753Gly, XP_047289427.1:p.Ser744Gly

Select item 147698669512.

rs1476986695 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:66400816 (GRCh38)
16:66434719 (GRCh37)
Canonical SPDI:: NC_000016.10:66400815:A:T
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66400816A>T, NC_000016.9:g.66434719A>T, NM_001795.5:c.1637A>T, NM_001795.4:c.1637A>T, NM_001795.3:c.1637A>T, XM_011522801.3:c.1664A>T, XM_011522801.2:c.1664A>T, XM_011522801.1:c.1664A>T, XM_047433470.1:c.1664A>T, XM_047433469.1:c.1664A>T, XM_047433471.1:c.1637A>T, NM_001114117.1:c.1292A>T, NP_001786.2:p.Glu546Val, XP_011521103.1:p.Glu555Val, XP_047289426.1:p.Glu555Val, XP_047289425.1:p.Glu555Val, XP_047289427.1:p.Glu546Val

Select item 147554850213.

rs1475548502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66392192 (GRCh38)
16:66426095 (GRCh37)
Canonical SPDI:: NC_000016.10:66392191:C:T
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (GnomAD)
HGVS:: NC_000016.10:g.66392192C>T, NC_000016.9:g.66426095C>T, NM_001795.5:c.1026C>T, NM_001795.4:c.1026C>T, NM_001795.3:c.1026C>T, XM_011522801.3:c.1053C>T, XM_011522801.2:c.1053C>T, XM_011522801.1:c.1053C>T, XM_047433470.1:c.1053C>T, XM_047433469.1:c.1053C>T, XM_047433471.1:c.1026C>T, NM_001114117.1:c.1026C>T

Select item 147531968014.

rs1475319680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66400901 (GRCh38)
16:66434804 (GRCh37)
Canonical SPDI:: NC_000016.10:66400900:C:T
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000106/2 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000016.10:g.66400901C>T, NC_000016.9:g.66434804C>T, NM_001795.5:c.1722C>T, NM_001795.4:c.1722C>T, NM_001795.3:c.1722C>T, XM_011522801.3:c.1749C>T, XM_011522801.2:c.1749C>T, XM_011522801.1:c.1749C>T, XM_047433470.1:c.1749C>T, XM_047433469.1:c.1749C>T, XM_047433471.1:c.1722C>T, NM_001114117.1:c.1377C>T

Select item 147346507515.

rs1473465075 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 16:66400893 (GRCh38)
16:66434796 (GRCh37)
Canonical SPDI:: NC_000016.10:66400892:A:
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000016.10:g.66400893del, NC_000016.9:g.66434796del, NM_001795.5:c.1714del, NM_001795.4:c.1714del, NM_001795.3:c.1714del, XM_011522801.3:c.1741del, XM_011522801.2:c.1741del, XM_011522801.1:c.1741del, XM_047433470.1:c.1741del, XM_047433469.1:c.1741del, XM_047433471.1:c.1714del, NM_001114117.1:c.1369del, NP_001786.2:p.Thr572fs, XP_011521103.1:p.Thr581fs, XP_047289426.1:p.Thr581fs, XP_047289425.1:p.Thr581fs, XP_047289427.1:p.Thr572fs

Select item 147267985316.

rs1472679853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66379483 (GRCh38)
16:66413386 (GRCh37)
Canonical SPDI:: NC_000016.10:66379482:G:A
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.66379483G>A, NC_000016.9:g.66413386G>A, NM_001795.5:c.146G>A, NM_001795.4:c.146G>A, NM_001795.3:c.146G>A, XM_011522801.3:c.146G>A, XM_011522801.2:c.146G>A, XM_011522801.1:c.146G>A, XM_047433470.1:c.146G>A, XM_047433469.1:c.146G>A, XM_047433471.1:c.146G>A, NM_001114117.1:c.146G>A, NP_001786.2:p.Trp49Ter, XP_011521103.1:p.Trp49Ter, XP_047289426.1:p.Trp49Ter, XP_047289425.1:p.Trp49Ter, XP_047289427.1:p.Trp49Ter

Select item 147169013617.

rs1471690136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:66402905 (GRCh38)
16:66436808 (GRCh37)
Canonical SPDI:: NC_000016.10:66402904:G:A,NC_000016.10:66402904:G:T
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.66402905G>A, NC_000016.10:g.66402905G>T, NC_000016.9:g.66436808G>A, NC_000016.9:g.66436808G>T, NM_001795.5:c.2091G>A, NM_001795.5:c.2091G>T, NM_001795.4:c.2091G>A, NM_001795.4:c.2091G>T, NM_001795.3:c.2091G>A, NM_001795.3:c.2091G>T, XM_011522801.3:c.2118G>A, XM_011522801.3:c.2118G>T, XM_011522801.2:c.2118G>A, XM_011522801.2:c.2118G>T, XM_011522801.1:c.2118G>A, XM_011522801.1:c.2118G>T, XM_047433470.1:c.2118G>A, XM_047433470.1:c.2118G>T, XM_047433469.1:c.2118G>A, XM_047433469.1:c.2118G>T, XM_047433471.1:c.2091G>A, XM_047433471.1:c.2091G>T, NM_001114117.1:c.1746G>A, NM_001114117.1:c.1746G>T

Select item 147142503118.

rs1471425031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66389418 (GRCh38)
16:66423321 (GRCh37)
Canonical SPDI:: NC_000016.10:66389417:T:C
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66389418T>C, NC_000016.9:g.66423321T>C, NM_001795.5:c.677T>C, NM_001795.4:c.677T>C, NM_001795.3:c.677T>C, XM_011522801.3:c.677T>C, XM_011522801.2:c.677T>C, XM_011522801.1:c.677T>C, XM_047433470.1:c.677T>C, XM_047433469.1:c.677T>C, XM_047433471.1:c.677T>C, NM_001114117.1:c.677T>C, NP_001786.2:p.Val226Ala, XP_011521103.1:p.Val226Ala, XP_047289426.1:p.Val226Ala, XP_047289425.1:p.Val226Ala, XP_047289427.1:p.Val226Ala

Select item 147123240219.

rs1471232402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:66400818 (GRCh38)
16:66434721 (GRCh37)
Canonical SPDI:: NC_000016.10:66400817:C:G
Gene:: CDH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.66400818C>G, NC_000016.9:g.66434721C>G, NM_001795.5:c.1639C>G, NM_001795.4:c.1639C>G, NM_001795.3:c.1639C>G, XM_011522801.3:c.1666C>G, XM_011522801.2:c.1666C>G, XM_011522801.1:c.1666C>G, XM_047433470.1:c.1666C>G, XM_047433469.1:c.1666C>G, XM_047433471.1:c.1639C>G, NM_001114117.1:c.1294C>G, NP_001786.2:p.His547Asp, XP_011521103.1:p.His556Asp, XP_047289426.1:p.His556Asp, XP_047289425.1:p.His556Asp, XP_047289427.1:p.His547Asp

Select item 147070495520.

rs1470704955 has merged into rs1390198781 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGC>-,GGCGGC [Show Flanks]
Chromosome:: 16:66402682 (GRCh38)
16:66436585 (GRCh37)
Canonical SPDI:: NC_000016.10:66402673:GCGGCGGCGGC:GCGGCGGC,NC_000016.10:66402673:GCGGCGGCGGC:GCGGCGGCGGCGGC
Gene:: CDH5 (Varview)
Functional Consequence:: inframe_insertion,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGGCGGCGGCGGC=0./0 (ALFA)
GCG=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.66402676GGC[2], NC_000016.10:g.66402676GGC[4], NC_000016.9:g.66436579GGC[2], NC_000016.9:g.66436579GGC[4], NM_001795.5:c.1862GGC[2], NM_001795.5:c.1862GGC[4], NM_001795.4:c.1862GGC[2], NM_001795.4:c.1862GGC[4], NM_001795.3:c.1862GGC[2], NM_001795.3:c.1862GGC[4], XM_011522801.3:c.1889GGC[2], XM_011522801.3:c.1889GGC[4], XM_011522801.2:c.1889GGC[2], XM_011522801.2:c.1889GGC[4], XM_011522801.1:c.1889GGC[2], XM_011522801.1:c.1889GGC[4], XM_047433470.1:c.1889GGC[2], XM_047433470.1:c.1889GGC[4], XM_047433469.1:c.1889GGC[2], XM_047433469.1:c.1889GGC[4], XM_047433471.1:c.1862GGC[2], XM_047433471.1:c.1862GGC[4], NM_001114117.1:c.1517GGC[2], NM_001114117.1:c.1517GGC[4], NP_001786.2:p.Arg623del, NP_001786.2:p.Arg623dup, XP_011521103.1:p.Arg632del, XP_011521103.1:p.Arg632dup, XP_047289426.1:p.Arg632del, XP_047289426.1:p.Arg632dup, XP_047289425.1:p.Arg632del, XP_047289425.1:p.Arg632dup, XP_047289427.1:p.Arg623del, XP_047289427.1:p.Arg623dup

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