Canonical Allele Identifier: CA006369

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53017
• ClinVar RCV Id: RCV000057636 ; RCV000505785 ; RCV000678914 ; RCV001388792 ; RCV002399408
• dbSNP Id: rs199472814
• gnomAD v4: 11-2778015-G-A
• COSMIC: COSM1211627
• MyVariant Identifiers: chr11:g.2799245G>A (hg19) ; chr11:g.2778015G>A (hg38)
• PubMed: PMID:9386136 ; PMID:10024302 ; PMID:15234419 ; PMID:15840476 ; PMID:16253915 ; PMID:16818214 ; PMID:17329207 ; PMID:17329209 ; PMID:17470695 ; PMID:19716085 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778015G>A , CM000673.2:g.2778015G>A	GRCh38
NC_000011.9:g.2799245G>A , CM000673.1:g.2799245G>A	GRCh37
NC_000011.8:g.2755821G>A	NCBI36
NG_008935.1:g.338025G>A , LRG_287:g.338025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1415G>A	ENSP00000434560.2:p.Arg472His
ENST00000646564.2:c.1232G>A	ENSP00000495806.2:p.Arg411His
ENST00000155840.12:c.1772G>A MANE Select	ENSP00000155840.2:p.Arg591His
ENST00000335475.6:c.1391G>A	ENSP00000334497.5:p.Arg464His
ENST00000526095.2:c.176G>A	ENSP00000494939.1:p.Arg59His
ENST00000646564.1:c.878G>A	ENSP00000495806.1:p.Arg293His
ENST00000155840.9:c.1772G>A	ENSP00000155840.2:p.Arg591His
ENST00000335475.5:c.1391G>A	ENSP00000334497.5:p.Arg464His
ENST00000526095.1:n.279G>A
NM_000218.2:c.1772G>A , LRG_287t1:c.1772G>A	NP_000209.2:p.Arg591His
NM_181798.1:c.1391G>A , LRG_287t2:c.1391G>A	NP_861463.1:p.Arg464His
NM_000218.3:c.1772G>A MANE Select	NP_000209.2:p.Arg591His