Canonical Allele Identifier: CA008737

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67124
• ClinVar RCV Id: RCV000057805
• dbSNP Id: rs199472744
• MyVariant Identifiers: chr11:g.2604672T>A (hg19) ; chr11:g.2583442T>A (hg38)
• PubMed: PMID:11668638 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583442T>A , CM000673.2:g.2583442T>A	GRCh38
NC_000011.9:g.2604672T>A , CM000673.1:g.2604672T>A	GRCh37
NC_000011.8:g.2561248T>A	NCBI36
NG_008935.1:g.143452T>A , LRG_287:g.143452T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.668T>A	ENSP00000434560.2:p.Val223Asp
ENST00000646564.2:c.485T>A	ENSP00000495806.2:p.Val162Asp
ENST00000155840.12:c.929T>A MANE Select	ENSP00000155840.2:p.Val310Asp
ENST00000335475.6:c.548T>A	ENSP00000334497.5:p.Val183Asp
ENST00000646564.1:c.131T>A	ENSP00000495806.1:p.Val44Asp
ENST00000155840.9:c.929T>A	ENSP00000155840.2:p.Val310Asp
ENST00000335475.5:c.548T>A	ENSP00000334497.5:p.Val183Asp
NM_000218.2:c.929T>A , LRG_287t1:c.929T>A	NP_000209.2:p.Val310Asp
NM_181798.1:c.548T>A , LRG_287t2:c.548T>A	NP_861463.1:p.Val183Asp
NM_000218.3:c.929T>A MANE Select	NP_000209.2:p.Val310Asp