SNP Links for Protein (Select 1034571513) - SNP

Select item 14853501911.

rs1485350191 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:74457370 (GRCh38)
11:74168415 (GRCh37)
Canonical SPDI:: NC_000011.10:74457369:A:G
Gene:: KCNE3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.74457370A>G, NC_000011.9:g.74168415A>G, NG_011833.1:g.15186T>C, NM_005472.5:c.194T>C, NM_005472.4:c.194T>C, XM_017017051.3:c.194T>C, XM_017017051.2:c.194T>C, XM_017017051.1:c.194T>C, XM_011544713.3:c.326T>C, XM_011544713.2:c.326T>C, XM_011544713.1:c.326T>C, XM_017017048.2:c.194T>C, XM_017017048.1:c.194T>C, XM_017017047.2:c.194T>C, XM_017017047.1:c.194T>C, XM_017017049.2:c.194T>C, XM_017017049.1:c.194T>C, XM_047426177.1:c.194T>C, XM_047426176.1:c.194T>C, NP_005463.1:p.Met65Thr, XP_016872540.1:p.Met65Thr, XP_011543015.1:p.Met109Thr, XP_016872537.1:p.Met65Thr, XP_016872536.1:p.Met65Thr, XP_016872538.1:p.Met65Thr, XP_047282133.1:p.Met65Thr, XP_047282132.1:p.Met65Thr

Select item 14767816352.

rs1476781635 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:74457285 (GRCh38)
11:74168330 (GRCh37)
Canonical SPDI:: NC_000011.10:74457284:AT:
Gene:: KCNE3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74457285_74457286del, NC_000011.9:g.74168330_74168331del, NG_011833.1:g.15270_15271del, NM_005472.5:c.278_279del, NM_005472.4:c.278_279del, XM_017017051.3:c.278_279del, XM_017017051.2:c.278_279del, XM_017017051.1:c.278_279del, XM_011544713.3:c.410_411del, XM_011544713.2:c.410_411del, XM_011544713.1:c.410_411del, XM_017017048.2:c.278_279del, XM_017017048.1:c.278_279del, XM_017017047.2:c.278_279del, XM_017017047.1:c.278_279del, XM_017017049.2:c.278_279del, XM_017017049.1:c.278_279del, XM_047426177.1:c.278_279del, XM_047426176.1:c.278_279del, NP_005463.1:p.His93fs, XP_016872540.1:p.His93fs, XP_011543015.1:p.His137fs, XP_016872537.1:p.His93fs, XP_016872536.1:p.His93fs, XP_016872538.1:p.His93fs, XP_047282133.1:p.His93fs, XP_047282132.1:p.His93fs

Select item 14668408323.

rs1466840832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:74457527 (GRCh38)
11:74168572 (GRCh37)
Canonical SPDI:: NC_000011.10:74457526:T:A,NC_000011.10:74457526:T:C
Gene:: KCNE3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.74457527T>A, NC_000011.10:g.74457527T>C, NC_000011.9:g.74168572T>A, NC_000011.9:g.74168572T>C, NG_011833.1:g.15029A>T, NG_011833.1:g.15029A>G, NM_005472.5:c.37A>T, NM_005472.5:c.37A>G, NM_005472.4:c.37A>T, NM_005472.4:c.37A>G, XM_017017051.3:c.37A>T, XM_017017051.3:c.37A>G, XM_017017051.2:c.37A>T, XM_017017051.2:c.37A>G, XM_017017051.1:c.37A>T, XM_017017051.1:c.37A>G, XM_011544713.3:c.169A>T, XM_011544713.3:c.169A>G, XM_011544713.2:c.169A>T, XM_011544713.2:c.169A>G, XM_011544713.1:c.169A>T, XM_011544713.1:c.169A>G, XM_017017048.2:c.37A>T, XM_017017048.2:c.37A>G, XM_017017048.1:c.37A>T, XM_017017048.1:c.37A>G, XM_017017047.2:c.37A>T, XM_017017047.2:c.37A>G, XM_017017047.1:c.37A>T, XM_017017047.1:c.37A>G, XM_017017049.2:c.37A>T, XM_017017049.2:c.37A>G, XM_017017049.1:c.37A>T, XM_017017049.1:c.37A>G, XM_047426177.1:c.37A>T, XM_047426177.1:c.37A>G, XM_047426176.1:c.37A>T, XM_047426176.1:c.37A>G, NP_005463.1:p.Ser13Cys, NP_005463.1:p.Ser13Gly, XP_016872540.1:p.Ser13Cys, XP_016872540.1:p.Ser13Gly, XP_011543015.1:p.Ser57Cys, XP_011543015.1:p.Ser57Gly, XP_016872537.1:p.Ser13Cys, XP_016872537.1:p.Ser13Gly, XP_016872536.1:p.Ser13Cys, XP_016872536.1:p.Ser13Gly, XP_016872538.1:p.Ser13Cys, XP_016872538.1:p.Ser13Gly, XP_047282133.1:p.Ser13Cys, XP_047282133.1:p.Ser13Gly, XP_047282132.1:p.Ser13Cys, XP_047282132.1:p.Ser13Gly

Select item 14592851234.

rs1459285123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:74457513 (GRCh38)
11:74168558 (GRCh37)
Canonical SPDI:: NC_000011.10:74457512:C:A,NC_000011.10:74457512:C:T
Gene:: KCNE3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.74457513C>A, NC_000011.10:g.74457513C>T, NC_000011.9:g.74168558C>A, NC_000011.9:g.74168558C>T, NG_011833.1:g.15043G>T, NG_011833.1:g.15043G>A, NM_005472.5:c.51G>T, NM_005472.5:c.51G>A, NM_005472.4:c.51G>T, NM_005472.4:c.51G>A, XM_017017051.3:c.51G>T, XM_017017051.3:c.51G>A, XM_017017051.2:c.51G>T, XM_017017051.2:c.51G>A, XM_017017051.1:c.51G>T, XM_017017051.1:c.51G>A, XM_011544713.3:c.183G>T, XM_011544713.3:c.183G>A, XM_011544713.2:c.183G>T, XM_011544713.2:c.183G>A, XM_011544713.1:c.183G>T, XM_011544713.1:c.183G>A, XM_017017048.2:c.51G>T, XM_017017048.2:c.51G>A, XM_017017048.1:c.51G>T, XM_017017048.1:c.51G>A, XM_017017047.2:c.51G>T, XM_017017047.2:c.51G>A, XM_017017047.1:c.51G>T, XM_017017047.1:c.51G>A, XM_017017049.2:c.51G>T, XM_017017049.2:c.51G>A, XM_017017049.1:c.51G>T, XM_017017049.1:c.51G>A, XM_047426177.1:c.51G>T, XM_047426177.1:c.51G>A, XM_047426176.1:c.51G>T, XM_047426176.1:c.51G>A

Select item 14541567855.

rs1454156785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:74457386 (GRCh38)
11:74168431 (GRCh37)
Canonical SPDI:: NC_000011.10:74457385:A:G
Gene:: KCNE3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.74457386A>G, NC_000011.9:g.74168431A>G, NG_011833.1:g.15170T>C, NM_005472.5:c.178T>C, NM_005472.4:c.178T>C, XM_017017051.3:c.178T>C, XM_017017051.2:c.178T>C, XM_017017051.1:c.178T>C, XM_011544713.3:c.310T>C, XM_011544713.2:c.310T>C, XM_011544713.1:c.310T>C, XM_017017048.2:c.178T>C, XM_017017048.1:c.178T>C, XM_017017047.2:c.178T>C, XM_017017047.1:c.178T>C, XM_017017049.2:c.178T>C, XM_017017049.1:c.178T>C, XM_047426177.1:c.178T>C, XM_047426176.1:c.178T>C, NP_005463.1:p.Tyr60His, XP_016872540.1:p.Tyr60His, XP_011543015.1:p.Tyr104His, XP_016872537.1:p.Tyr60His, XP_016872536.1:p.Tyr60His, XP_016872538.1:p.Tyr60His, XP_047282133.1:p.Tyr60His, XP_047282132.1:p.Tyr60His

Select item 14161753886.

rs1416175388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:74457381 (GRCh38)
11:74168426 (GRCh37)
Canonical SPDI:: NC_000011.10:74457380:A:G
Gene:: KCNE3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74457381A>G, NC_000011.9:g.74168426A>G, NG_011833.1:g.15175T>C, NM_005472.5:c.183T>C, NM_005472.4:c.183T>C, XM_017017051.3:c.183T>C, XM_017017051.2:c.183T>C, XM_017017051.1:c.183T>C, XM_011544713.3:c.315T>C, XM_011544713.2:c.315T>C, XM_011544713.1:c.315T>C, XM_017017048.2:c.183T>C, XM_017017048.1:c.183T>C, XM_017017047.2:c.183T>C, XM_017017047.1:c.183T>C, XM_017017049.2:c.183T>C, XM_017017049.1:c.183T>C, XM_047426177.1:c.183T>C, XM_047426176.1:c.183T>C

Select item 13700459497.

rs1370045949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:74457487 (GRCh38)
11:74168532 (GRCh37)
Canonical SPDI:: NC_000011.10:74457486:T:C
Gene:: KCNE3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74457487T>C, NC_000011.9:g.74168532T>C, NG_011833.1:g.15069A>G, NM_005472.5:c.77A>G, NM_005472.4:c.77A>G, XM_017017051.3:c.77A>G, XM_017017051.2:c.77A>G, XM_017017051.1:c.77A>G, XM_011544713.3:c.209A>G, XM_011544713.2:c.209A>G, XM_011544713.1:c.209A>G, XM_017017048.2:c.77A>G, XM_017017048.1:c.77A>G, XM_017017047.2:c.77A>G, XM_017017047.1:c.77A>G, XM_017017049.2:c.77A>G, XM_017017049.1:c.77A>G, XM_047426177.1:c.77A>G, XM_047426176.1:c.77A>G, NP_005463.1:p.His26Arg, XP_016872540.1:p.His26Arg, XP_011543015.1:p.His70Arg, XP_016872537.1:p.His26Arg, XP_016872536.1:p.His26Arg, XP_016872538.1:p.His26Arg, XP_047282133.1:p.His26Arg, XP_047282132.1:p.His26Arg

Select item 13291388998.

rs1329138899 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:74457286 (GRCh38)
11:74168331 (GRCh37)
Canonical SPDI:: NC_000011.10:74457285:T:C
Gene:: KCNE3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.74457286T>C, NC_000011.9:g.74168331T>C, NG_011833.1:g.15270A>G, NM_005472.5:c.278A>G, NM_005472.4:c.278A>G, XM_017017051.3:c.278A>G, XM_017017051.2:c.278A>G, XM_017017051.1:c.278A>G, XM_011544713.3:c.410A>G, XM_011544713.2:c.410A>G, XM_011544713.1:c.410A>G, XM_017017048.2:c.278A>G, XM_017017048.1:c.278A>G, XM_017017047.2:c.278A>G, XM_017017047.1:c.278A>G, XM_017017049.2:c.278A>G, XM_017017049.1:c.278A>G, XM_047426177.1:c.278A>G, XM_047426176.1:c.278A>G, NP_005463.1:p.His93Arg, XP_016872540.1:p.His93Arg, XP_011543015.1:p.His137Arg, XP_016872537.1:p.His93Arg, XP_016872536.1:p.His93Arg, XP_016872538.1:p.His93Arg, XP_047282133.1:p.His93Arg, XP_047282132.1:p.His93Arg

Select item 13127862199.

rs1312786219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:74457503 (GRCh38)
11:74168548 (GRCh37)
Canonical SPDI:: NC_000011.10:74457502:G:A
Gene:: KCNE3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74457503G>A, NC_000011.9:g.74168548G>A, NG_011833.1:g.15053C>T, NM_005472.5:c.61C>T, NM_005472.4:c.61C>T, XM_017017051.3:c.61C>T, XM_017017051.2:c.61C>T, XM_017017051.1:c.61C>T, XM_011544713.3:c.193C>T, XM_011544713.2:c.193C>T, XM_011544713.1:c.193C>T, XM_017017048.2:c.61C>T, XM_017017048.1:c.61C>T, XM_017017047.2:c.61C>T, XM_017017047.1:c.61C>T, XM_017017049.2:c.61C>T, XM_017017049.1:c.61C>T, XM_047426177.1:c.61C>T, XM_047426176.1:c.61C>T

Select item 130967134510.

rs1309671345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:74457486 (GRCh38)
11:74168531 (GRCh37)
Canonical SPDI:: NC_000011.10:74457485:G:A
Gene:: KCNE3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74457486G>A, NC_000011.9:g.74168531G>A, NG_011833.1:g.15070C>T, NM_005472.5:c.78C>T, NM_005472.4:c.78C>T, XM_017017051.3:c.78C>T, XM_017017051.2:c.78C>T, XM_017017051.1:c.78C>T, XM_011544713.3:c.210C>T, XM_011544713.2:c.210C>T, XM_011544713.1:c.210C>T, XM_017017048.2:c.78C>T, XM_017017048.1:c.78C>T, XM_017017047.2:c.78C>T, XM_017017047.1:c.78C>T, XM_017017049.2:c.78C>T, XM_017017049.1:c.78C>T, XM_047426177.1:c.78C>T, XM_047426176.1:c.78C>T

Select item 130593437211.

rs1305934372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:74457417 (GRCh38)
11:74168462 (GRCh37)
Canonical SPDI:: NC_000011.10:74457416:G:C
Gene:: KCNE3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74457417G>C, NC_000011.9:g.74168462G>C, NG_011833.1:g.15139C>G, NM_005472.5:c.147C>G, NM_005472.4:c.147C>G, XM_017017051.3:c.147C>G, XM_017017051.2:c.147C>G, XM_017017051.1:c.147C>G, XM_011544713.3:c.279C>G, XM_011544713.2:c.279C>G, XM_011544713.1:c.279C>G, XM_017017048.2:c.147C>G, XM_017017048.1:c.147C>G, XM_017017047.2:c.147C>G, XM_017017047.1:c.147C>G, XM_017017049.2:c.147C>G, XM_017017049.1:c.147C>G, XM_047426177.1:c.147C>G, XM_047426176.1:c.147C>G, NP_005463.1:p.Ser49Arg, XP_016872540.1:p.Ser49Arg, XP_011543015.1:p.Ser93Arg, XP_016872537.1:p.Ser49Arg, XP_016872536.1:p.Ser49Arg, XP_016872538.1:p.Ser49Arg, XP_047282133.1:p.Ser49Arg, XP_047282132.1:p.Ser49Arg

Select item 127950746512.

rs1279507465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:74457258 (GRCh38)
11:74168303 (GRCh37)
Canonical SPDI:: NC_000011.10:74457257:C:G
Gene:: KCNE3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74457258C>G, NC_000011.9:g.74168303C>G, NG_011833.1:g.15298G>C, NM_005472.5:c.306G>C, NM_005472.4:c.306G>C, XM_017017051.3:c.306G>C, XM_017017051.2:c.306G>C, XM_017017051.1:c.306G>C, XM_011544713.3:c.438G>C, XM_011544713.2:c.438G>C, XM_011544713.1:c.438G>C, XM_017017048.2:c.306G>C, XM_017017048.1:c.306G>C, XM_017017047.2:c.306G>C, XM_017017047.1:c.306G>C, XM_017017049.2:c.306G>C, XM_017017049.1:c.306G>C, XM_047426177.1:c.306G>C, XM_047426176.1:c.306G>C, NP_005463.1:p.Met102Ile, XP_016872540.1:p.Met102Ile, XP_011543015.1:p.Met146Ile, XP_016872537.1:p.Met102Ile, XP_016872536.1:p.Met102Ile, XP_016872538.1:p.Met102Ile, XP_047282133.1:p.Met102Ile, XP_047282132.1:p.Met102Ile

Select item 127945473213.

rs1279454732 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:74457329 (GRCh38)
11:74168374 (GRCh37)
Canonical SPDI:: NC_000011.10:74457328:A:G
Gene:: KCNE3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74457329A>G, NC_000011.9:g.74168374A>G, NG_011833.1:g.15227T>C, NM_005472.5:c.235T>C, NM_005472.4:c.235T>C, XM_017017051.3:c.235T>C, XM_017017051.2:c.235T>C, XM_017017051.1:c.235T>C, XM_011544713.3:c.367T>C, XM_011544713.2:c.367T>C, XM_011544713.1:c.367T>C, XM_017017048.2:c.235T>C, XM_017017048.1:c.235T>C, XM_017017047.2:c.235T>C, XM_017017047.1:c.235T>C, XM_017017049.2:c.235T>C, XM_017017049.1:c.235T>C, XM_047426177.1:c.235T>C, XM_047426176.1:c.235T>C, NP_005463.1:p.Tyr79His, XP_016872540.1:p.Tyr79His, XP_011543015.1:p.Tyr123His, XP_016872537.1:p.Tyr79His, XP_016872536.1:p.Tyr79His, XP_016872538.1:p.Tyr79His, XP_047282133.1:p.Tyr79His, XP_047282132.1:p.Tyr79His

Select item 125990560814.

rs1259905608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:74457359 (GRCh38)
11:74168404 (GRCh37)
Canonical SPDI:: NC_000011.10:74457358:C:T
Gene:: KCNE3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74457359C>T, NC_000011.9:g.74168404C>T, NG_011833.1:g.15197G>A, NM_005472.5:c.205G>A, NM_005472.4:c.205G>A, XM_017017051.3:c.205G>A, XM_017017051.2:c.205G>A, XM_017017051.1:c.205G>A, XM_011544713.3:c.337G>A, XM_011544713.2:c.337G>A, XM_011544713.1:c.337G>A, XM_017017048.2:c.205G>A, XM_017017048.1:c.205G>A, XM_017017047.2:c.205G>A, XM_017017047.1:c.205G>A, XM_017017049.2:c.205G>A, XM_017017049.1:c.205G>A, XM_047426177.1:c.205G>A, XM_047426176.1:c.205G>A, NP_005463.1:p.Ala69Thr, XP_016872540.1:p.Ala69Thr, XP_011543015.1:p.Ala113Thr, XP_016872537.1:p.Ala69Thr, XP_016872536.1:p.Ala69Thr, XP_016872538.1:p.Ala69Thr, XP_047282133.1:p.Ala69Thr, XP_047282132.1:p.Ala69Thr

Select item 125634346315.

rs1256343463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:74457506 (GRCh38)
11:74168551 (GRCh37)
Canonical SPDI:: NC_000011.10:74457505:C:G,NC_000011.10:74457505:C:T
Gene:: KCNE3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.74457506C>G, NC_000011.10:g.74457506C>T, NC_000011.9:g.74168551C>G, NC_000011.9:g.74168551C>T, NG_011833.1:g.15050G>C, NG_011833.1:g.15050G>A, NM_005472.5:c.58G>C, NM_005472.5:c.58G>A, NM_005472.4:c.58G>C, NM_005472.4:c.58G>A, XM_017017051.3:c.58G>C, XM_017017051.3:c.58G>A, XM_017017051.2:c.58G>C, XM_017017051.2:c.58G>A, XM_017017051.1:c.58G>C, XM_017017051.1:c.58G>A, XM_011544713.3:c.190G>C, XM_011544713.3:c.190G>A, XM_011544713.2:c.190G>C, XM_011544713.2:c.190G>A, XM_011544713.1:c.190G>C, XM_011544713.1:c.190G>A, XM_017017048.2:c.58G>C, XM_017017048.2:c.58G>A, XM_017017048.1:c.58G>C, XM_017017048.1:c.58G>A, XM_017017047.2:c.58G>C, XM_017017047.2:c.58G>A, XM_017017047.1:c.58G>C, XM_017017047.1:c.58G>A, XM_017017049.2:c.58G>C, XM_017017049.2:c.58G>A, XM_017017049.1:c.58G>C, XM_017017049.1:c.58G>A, XM_047426177.1:c.58G>C, XM_047426177.1:c.58G>A, XM_047426176.1:c.58G>C, XM_047426176.1:c.58G>A, NP_005463.1:p.Ala20Pro, NP_005463.1:p.Ala20Thr, XP_016872540.1:p.Ala20Pro, XP_016872540.1:p.Ala20Thr, XP_011543015.1:p.Ala64Pro, XP_011543015.1:p.Ala64Thr, XP_016872537.1:p.Ala20Pro, XP_016872537.1:p.Ala20Thr, XP_016872536.1:p.Ala20Pro, XP_016872536.1:p.Ala20Thr, XP_016872538.1:p.Ala20Pro, XP_016872538.1:p.Ala20Thr, XP_047282133.1:p.Ala20Pro, XP_047282133.1:p.Ala20Thr, XP_047282132.1:p.Ala20Pro, XP_047282132.1:p.Ala20Thr

Select item 125278822516.

rs1252788225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:74457413 (GRCh38)
11:74168458 (GRCh37)
Canonical SPDI:: NC_000011.10:74457412:G:A
Gene:: KCNE3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.74457413G>A, NC_000011.9:g.74168458G>A, NG_011833.1:g.15143C>T, NM_005472.5:c.151C>T, NM_005472.4:c.151C>T, XM_017017051.3:c.151C>T, XM_017017051.2:c.151C>T, XM_017017051.1:c.151C>T, XM_011544713.3:c.283C>T, XM_011544713.2:c.283C>T, XM_011544713.1:c.283C>T, XM_017017048.2:c.151C>T, XM_017017048.1:c.151C>T, XM_017017047.2:c.151C>T, XM_017017047.1:c.151C>T, XM_017017049.2:c.151C>T, XM_017017049.1:c.151C>T, XM_047426177.1:c.151C>T, XM_047426176.1:c.151C>T, NP_005463.1:p.Pro51Ser, XP_016872540.1:p.Pro51Ser, XP_011543015.1:p.Pro95Ser, XP_016872537.1:p.Pro51Ser, XP_016872536.1:p.Pro51Ser, XP_016872538.1:p.Pro51Ser, XP_047282133.1:p.Pro51Ser, XP_047282132.1:p.Pro51Ser

Select item 123215644317.

rs1232156443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:74457339 (GRCh38)
11:74168384 (GRCh37)
Canonical SPDI:: NC_000011.10:74457338:G:A
Gene:: KCNE3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74457339G>A, NC_000011.9:g.74168384G>A, NG_011833.1:g.15217C>T, NM_005472.5:c.225C>T, NM_005472.4:c.225C>T, XM_017017051.3:c.225C>T, XM_017017051.2:c.225C>T, XM_017017051.1:c.225C>T, XM_011544713.3:c.357C>T, XM_011544713.2:c.357C>T, XM_011544713.1:c.357C>T, XM_017017048.2:c.225C>T, XM_017017048.1:c.225C>T, XM_017017047.2:c.225C>T, XM_017017047.1:c.225C>T, XM_017017049.2:c.225C>T, XM_017017049.1:c.225C>T, XM_047426177.1:c.225C>T, XM_047426176.1:c.225C>T

Select item 121739770418.

rs1217397704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:74457493 (GRCh38)
11:74168538 (GRCh37)
Canonical SPDI:: NC_000011.10:74457492:G:A
Gene:: KCNE3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74457493G>A, NC_000011.9:g.74168538G>A, NG_011833.1:g.15063C>T, NM_005472.5:c.71C>T, NM_005472.4:c.71C>T, XM_017017051.3:c.71C>T, XM_017017051.2:c.71C>T, XM_017017051.1:c.71C>T, XM_011544713.3:c.203C>T, XM_011544713.2:c.203C>T, XM_011544713.1:c.203C>T, XM_017017048.2:c.71C>T, XM_017017048.1:c.71C>T, XM_017017047.2:c.71C>T, XM_017017047.1:c.71C>T, XM_017017049.2:c.71C>T, XM_017017049.1:c.71C>T, XM_047426177.1:c.71C>T, XM_047426176.1:c.71C>T, NP_005463.1:p.Thr24Ile, XP_016872540.1:p.Thr24Ile, XP_011543015.1:p.Thr68Ile, XP_016872537.1:p.Thr24Ile, XP_016872536.1:p.Thr24Ile, XP_016872538.1:p.Thr24Ile, XP_047282133.1:p.Thr24Ile, XP_047282132.1:p.Thr24Ile

Select item 121267050619.

rs1212670506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:74457266 (GRCh38)
11:74168311 (GRCh37)
Canonical SPDI:: NC_000011.10:74457265:C:T
Gene:: KCNE3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74457266C>T, NC_000011.9:g.74168311C>T, NG_011833.1:g.15290G>A, NM_005472.5:c.298G>A, NM_005472.4:c.298G>A, XM_017017051.3:c.298G>A, XM_017017051.2:c.298G>A, XM_017017051.1:c.298G>A, XM_011544713.3:c.430G>A, XM_011544713.2:c.430G>A, XM_011544713.1:c.430G>A, XM_017017048.2:c.298G>A, XM_017017048.1:c.298G>A, XM_017017047.2:c.298G>A, XM_017017047.1:c.298G>A, XM_017017049.2:c.298G>A, XM_017017049.1:c.298G>A, XM_047426177.1:c.298G>A, XM_047426176.1:c.298G>A, NP_005463.1:p.Val100Met, XP_016872540.1:p.Val100Met, XP_011543015.1:p.Val144Met, XP_016872537.1:p.Val100Met, XP_016872536.1:p.Val100Met, XP_016872538.1:p.Val100Met, XP_047282133.1:p.Val100Met, XP_047282132.1:p.Val100Met

Select item 121022818020.

rs1210228180 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:74457278 (GRCh38)
11:74168323 (GRCh37)
Canonical SPDI:: NC_000011.10:74457277:T:A
Gene:: KCNE3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74457278T>A, NC_000011.9:g.74168323T>A, NG_011833.1:g.15278A>T, NM_005472.5:c.286A>T, NM_005472.4:c.286A>T, XM_017017051.3:c.286A>T, XM_017017051.2:c.286A>T, XM_017017051.1:c.286A>T, XM_011544713.3:c.418A>T, XM_011544713.2:c.418A>T, XM_011544713.1:c.418A>T, XM_017017048.2:c.286A>T, XM_017017048.1:c.286A>T, XM_017017047.2:c.286A>T, XM_017017047.1:c.286A>T, XM_017017049.2:c.286A>T, XM_017017049.1:c.286A>T, XM_047426177.1:c.286A>T, XM_047426176.1:c.286A>T, NP_005463.1:p.Ile96Phe, XP_016872540.1:p.Ile96Phe, XP_011543015.1:p.Ile140Phe, XP_016872537.1:p.Ile96Phe, XP_016872536.1:p.Ile96Phe, XP_016872538.1:p.Ile96Phe, XP_047282133.1:p.Ile96Phe, XP_047282132.1:p.Ile96Phe

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