Canonical Allele Identifier: CA008454

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53117
• ClinVar RCV Id: RCV000046143 ; RCV000057777 ; RCV001841654
• dbSNP Id: rs199473462
• gnomAD v4: 11-2572904-T-A
• MyVariant Identifiers: chr11:g.2594134T>A (hg19) ; chr11:g.2572904T>A (hg38)
• PubMed: PMID:16414944 ; PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572904T>A , CM000673.2:g.2572904T>A	GRCh38
NC_000011.9:g.2594134T>A , CM000673.1:g.2594134T>A	GRCh37
NC_000011.8:g.2550710T>A	NCBI36
NG_008935.1:g.132914T>A , LRG_287:g.132914T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.578T>A	ENSP00000434560.2:p.Val193Glu
ENST00000646564.2:c.478-10531T>A	ENSP00000495806.2:n.478-10531T>A
ENST00000155840.12:c.839T>A MANE Select	ENSP00000155840.2:p.Val280Glu
ENST00000335475.6:c.458T>A	ENSP00000334497.5:p.Val153Glu
ENST00000646564.1:c.124-10531T>A	ENSP00000495806.1:n.124-10531T>A
ENST00000155840.9:c.839T>A	ENSP00000155840.2:p.Val280Glu
ENST00000335475.5:c.458T>A	ENSP00000334497.5:p.Val153Glu
ENST00000496887.6:c.578T>A	ENSP00000434560.1:p.Val193Glu
NM_000218.2:c.839T>A , LRG_287t1:c.839T>A	NP_000209.2:p.Val280Glu
NM_181798.1:c.458T>A , LRG_287t2:c.458T>A	NP_861463.1:p.Val153Glu
NM_000218.3:c.839T>A MANE Select	NP_000209.2:p.Val280Glu