Canonical Allele Identifier: CA004955

Gene: KCNQ1

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

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