Canonical Allele Identifier: CA007480

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3114
• ClinVar RCV Id: RCV000003261 ; RCV000057702 ; RCV000223880 ; RCV001383882
• dbSNP Id: rs104894252
• gnomAD v4: 11-2570715-G-A
• COSMIC: COSM4552657 ; COSM4552658
• MyVariant Identifiers: chr11:g.2591945G>A (hg19) ; chr11:g.2570715G>A (hg38)
• PubMed: PMID:8528244 ; PMID:10220144 ; PMID:17470695 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570715G>A , CM000673.2:g.2570715G>A	GRCh38
NC_000011.9:g.2591945G>A , CM000673.1:g.2591945G>A	GRCh37
NC_000011.8:g.2548521G>A	NCBI36
NG_008935.1:g.130725G>A , LRG_287:g.130725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.304G>A	ENSP00000434560.2:p.Gly102Arg
ENST00000646564.2:c.478-12720G>A	ENSP00000495806.2:n.478-12720G>A
ENST00000155840.12:c.565G>A MANE Select	ENSP00000155840.2:p.Gly189Arg
ENST00000335475.6:c.184G>A	ENSP00000334497.5:p.Gly62Arg
ENST00000646564.1:c.124-12720G>A	ENSP00000495806.1:n.124-12720G>A
ENST00000155840.9:c.565G>A	ENSP00000155840.2:p.Gly189Arg
ENST00000335475.5:c.184G>A	ENSP00000334497.5:p.Gly62Arg
ENST00000496887.6:c.304G>A	ENSP00000434560.1:p.Gly102Arg
NM_000218.2:c.565G>A , LRG_287t1:c.565G>A	NP_000209.2:p.Gly189Arg
NM_181798.1:c.184G>A , LRG_287t2:c.184G>A	NP_861463.1:p.Gly62Arg
NM_000218.3:c.565G>A MANE Select	NP_000209.2:p.Gly189Arg