Canonical Allele Identifier: CA008292

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3145
• ClinVar RCV Id: RCV000003295 ; RCV000046133 ; RCV000057766 ; RCV000182119 ; RCV002415391 ; RCV003982822
• dbSNP Id: rs120074194
• gnomAD v3: 11-2572871-G-A
• gnomAD v4: 11-2572871-G-A
• MyVariant Identifiers: chr11:g.2594101G>A (hg19) ; chr11:g.2572871G>A (hg38)
• PubMed: PMID:9386136 ; PMID:10973849 ; PMID:12051962 ; PMID:14678125 ; PMID:15466642 ; PMID:15840476 ; PMID:17470695 ; PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572871G>A , CM000673.2:g.2572871G>A	GRCh38
NC_000011.9:g.2594101G>A , CM000673.1:g.2594101G>A	GRCh37
NC_000011.8:g.2550677G>A	NCBI36
NG_008935.1:g.132881G>A , LRG_287:g.132881G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.545G>A	ENSP00000434560.2:p.Gly182Asp
ENST00000646564.2:c.478-10564G>A	ENSP00000495806.2:n.478-10564G>A
ENST00000155840.12:c.806G>A MANE Select	ENSP00000155840.2:p.Gly269Asp
ENST00000335475.6:c.425G>A	ENSP00000334497.5:p.Gly142Asp
ENST00000646564.1:c.124-10564G>A	ENSP00000495806.1:n.124-10564G>A
ENST00000155840.9:c.806G>A	ENSP00000155840.2:p.Gly269Asp
ENST00000335475.5:c.425G>A	ENSP00000334497.5:p.Gly142Asp
ENST00000496887.6:c.545G>A	ENSP00000434560.1:p.Gly182Asp
NM_000218.2:c.806G>A , LRG_287t1:c.806G>A	NP_000209.2:p.Gly269Asp
NM_181798.1:c.425G>A , LRG_287t2:c.425G>A	NP_861463.1:p.Gly142Asp
NM_000218.3:c.806G>A MANE Select	NP_000209.2:p.Gly269Asp