Canonical Allele Identifier: CA040994
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 926686
ClinVar RCV Id: RCV001862995 RCV003319447 RCV001841084 RCV004033391
dbSNP Id: rs765665086
ExAC: 11:2594154 G / T
gnomAD v2: 11-2594154-G-T
gnomAD v3: 11-2572924-G-T
gnomAD v4: 11-2572924-G-T
MyVariant Identifiers: chr11:g.2594154G>T (hg19) chr11:g.2572924G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572924G>T , CM000673.2:g.2572924G>T GRCh38
NC_000011.9:g.2594154G>T , CM000673.1:g.2594154G>T GRCh37
NC_000011.8:g.2550730G>T NCBI36
NG_008935.1:g.132934G>T , LRG_287:g.132934G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.598G>T ENSP00000434560.2:p.Ala200Ser
ENST00000646564.2:c.478-10511G>T ENSP00000495806.2:n.478-10511G>T
ENST00000155840.12:c.859G>T MANE Select ENSP00000155840.2:p.Ala287Ser
ENST00000335475.6:c.478G>T ENSP00000334497.5:p.Ala160Ser
ENST00000646564.1:c.124-10511G>T ENSP00000495806.1:n.124-10511G>T
ENST00000155840.9:c.859G>T ENSP00000155840.2:p.Ala287Ser
ENST00000335475.5:c.478G>T ENSP00000334497.5:p.Ala160Ser
NM_000218.2:c.859G>T , LRG_287t1:c.859G>T NP_000209.2:p.Ala287Ser
NM_181798.1:c.478G>T , LRG_287t2:c.478G>T NP_861463.1:p.Ala160Ser
NM_000218.3:c.859G>T MANE Select NP_000209.2:p.Ala287Ser
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