Canonical Allele Identifier: CA008728

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53133
• ClinVar RCV Id: RCV000057804 ; RCV000520168 ; RCV001852980 ; RCV003591650
• dbSNP Id: rs199472745
• gnomAD v4: 11-2583441-G-A
• MyVariant Identifiers: chr11:g.2604671G>A (hg19) ; chr11:g.2583441G>A (hg38)
• PubMed: PMID:10973849 ; PMID:15051636 ; PMID:15649981 ; PMID:17470695 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583441G>A , CM000673.2:g.2583441G>A	GRCh38
NC_000011.9:g.2604671G>A , CM000673.1:g.2604671G>A	GRCh37
NC_000011.8:g.2561247G>A	NCBI36
NG_008935.1:g.143451G>A , LRG_287:g.143451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.667G>A	ENSP00000434560.2:p.Val223Ile
ENST00000646564.2:c.484G>A	ENSP00000495806.2:p.Val162Ile
ENST00000155840.12:c.928G>A MANE Select	ENSP00000155840.2:p.Val310Ile
ENST00000335475.6:c.547G>A	ENSP00000334497.5:p.Val183Ile
ENST00000646564.1:c.130G>A	ENSP00000495806.1:p.Val44Ile
ENST00000155840.9:c.928G>A	ENSP00000155840.2:p.Val310Ile
ENST00000335475.5:c.547G>A	ENSP00000334497.5:p.Val183Ile
NM_000218.2:c.928G>A , LRG_287t1:c.928G>A	NP_000209.2:p.Val310Ile
NM_181798.1:c.547G>A , LRG_287t2:c.547G>A	NP_861463.1:p.Val183Ile
NM_000218.3:c.928G>A MANE Select	NP_000209.2:p.Val310Ile