Canonical Allele Identifier: CA007925

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53087
• ClinVar RCV Id: RCV000046107 ; RCV000057734 ; RCV000115007 ; RCV000115008 ; RCV000182101 ; RCV000762833 ; RCV002371883
• dbSNP Id: rs199472709
• gnomAD v2: 11-2593251-G-A
• gnomAD v4: 11-2572021-G-A
• MyVariant Identifiers: chr11:g.2593251G>A (hg19) ; chr11:g.2572021G>A (hg38)
• PubMed: PMID:16414944 ; PMID:18452873 ; PMID:19716085 ; PMID:22581653 ; PMID:23350853 ; PMID:23851063

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572021G>A , CM000673.2:g.2572021G>A	GRCh38
NC_000011.9:g.2593251G>A , CM000673.1:g.2593251G>A	GRCh37
NC_000011.8:g.2549827G>A	NCBI36
NG_008935.1:g.132031G>A , LRG_287:g.132031G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.431G>A	ENSP00000434560.2:p.Arg144His
ENST00000646564.2:c.478-11414G>A	ENSP00000495806.2:n.478-11414G>A
ENST00000155840.12:c.692G>A MANE Select	ENSP00000155840.2:p.Arg231His
ENST00000335475.6:c.311G>A	ENSP00000334497.5:p.Arg104His
ENST00000646564.1:c.124-11414G>A	ENSP00000495806.1:n.124-11414G>A
ENST00000155840.9:c.692G>A	ENSP00000155840.2:p.Arg231His
ENST00000335475.5:c.311G>A	ENSP00000334497.5:p.Arg104His
ENST00000496887.6:c.431G>A	ENSP00000434560.1:p.Arg144His
NM_000218.2:c.692G>A , LRG_287t1:c.692G>A	NP_000209.2:p.Arg231His
NM_181798.1:c.311G>A , LRG_287t2:c.311G>A	NP_861463.1:p.Arg104His
NM_000218.3:c.692G>A MANE Select	NP_000209.2:p.Arg231His