Canonical Allele Identifier: CA007593

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67085
• ClinVar RCV Id: RCV000057709 ; RCV000182300 ; RCV000530014 ; RCV001253678 ; RCV001841686 ; RCV003162438
• dbSNP Id: rs199472698
• gnomAD v2: 11-2591955-G-A
• gnomAD v3: 11-2570725-G-A
• gnomAD v4: 11-2570725-G-A
• COSMIC: COSM1211624
• MyVariant Identifiers: chr11:g.2591955G>A (hg19) ; chr11:g.2570725G>A (hg38)
• PubMed: PMID:16922724 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570725G>A , CM000673.2:g.2570725G>A	GRCh38
NC_000011.9:g.2591955G>A , CM000673.1:g.2591955G>A	GRCh37
NC_000011.8:g.2548531G>A	NCBI36
NG_008935.1:g.130735G>A , LRG_287:g.130735G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.314G>A	ENSP00000434560.2:p.Arg105His
ENST00000646564.2:c.478-12710G>A	ENSP00000495806.2:n.478-12710G>A
ENST00000155840.12:c.575G>A MANE Select	ENSP00000155840.2:p.Arg192His
ENST00000335475.6:c.194G>A	ENSP00000334497.5:p.Arg65His
ENST00000646564.1:c.124-12710G>A	ENSP00000495806.1:n.124-12710G>A
ENST00000155840.9:c.575G>A	ENSP00000155840.2:p.Arg192His
ENST00000335475.5:c.194G>A	ENSP00000334497.5:p.Arg65His
ENST00000496887.6:c.314G>A	ENSP00000434560.1:p.Arg105His
NM_000218.2:c.575G>A , LRG_287t1:c.575G>A	NP_000209.2:p.Arg192His
NM_181798.1:c.194G>A , LRG_287t2:c.194G>A	NP_861463.1:p.Arg65His
NM_000218.3:c.575G>A MANE Select	NP_000209.2:p.Arg192His