Canonical Allele Identifier: CA004955
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67006
ClinVar RCV Id: RCV000057533 RCV000223742 RCV000617913 RCV001212181
dbSNP Id: rs199472763
gnomAD v4: 11-2583544-C-A
MyVariant Identifiers: chr11:g.2604774C>A (hg19) chr11:g.2583544C>A (hg38)
PubMed: PMID:9386136 PMID:15234419 PMID:15840476 PMID:19261104 PMID:21511995 PMID:22581653 PMID:23098067 PMID:24363352 PMID:26669661 PMID:27920829
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583544C>A , CM000673.2:g.2583544C>A GRCh38
NC_000011.9:g.2604774C>A , CM000673.1:g.2604774C>A GRCh37
NC_000011.8:g.2561350C>A NCBI36
NG_008935.1:g.143554C>A , LRG_287:g.143554C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.770C>A ENSP00000434560.2:p.Ala257Glu
ENST00000646564.2:c.587C>A ENSP00000495806.2:p.Ala196Glu
ENST00000155840.12:c.1031C>A MANE Select ENSP00000155840.2:p.Ala344Glu
ENST00000335475.6:c.650C>A ENSP00000334497.5:p.Ala217Glu
ENST00000646564.1:c.233C>A ENSP00000495806.1:p.Ala78Glu
ENST00000155840.9:c.1031C>A ENSP00000155840.2:p.Ala344Glu
ENST00000335475.5:c.650C>A ENSP00000334497.5:p.Ala217Glu
NM_000218.2:c.1031C>A , LRG_287t1:c.1031C>A NP_000209.2:p.Ala344Glu
NM_181798.1:c.650C>A , LRG_287t2:c.650C>A NP_861463.1:p.Ala217Glu
NM_000218.3:c.1031C>A MANE Select NP_000209.2:p.Ala344Glu
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