Canonical Allele Identifier: CA008583

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67121
• ClinVar RCV Id: RCV000057791 ; RCV000689954 ; RCV000182129 ; RCV002371901
• dbSNP Id: rs193922365
• MyVariant Identifiers: chr11:g.2594200C>A (hg19) ; chr11:g.2572970C>A (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572970C>A , CM000673.2:g.2572970C>A	GRCh38
NC_000011.9:g.2594200C>A , CM000673.1:g.2594200C>A	GRCh37
NC_000011.8:g.2550776C>A	NCBI36
NG_008935.1:g.132980C>A , LRG_287:g.132980C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.644C>A	ENSP00000434560.2:p.Ala215Glu
ENST00000646564.2:c.478-10465C>A	ENSP00000495806.2:n.478-10465C>A
ENST00000155840.12:c.905C>A MANE Select	ENSP00000155840.2:p.Ala302Glu
ENST00000335475.6:c.524C>A	ENSP00000334497.5:p.Ala175Glu
ENST00000646564.1:c.124-10465C>A	ENSP00000495806.1:n.124-10465C>A
ENST00000155840.9:c.905C>A	ENSP00000155840.2:p.Ala302Glu
ENST00000335475.5:c.524C>A	ENSP00000334497.5:p.Ala175Glu
NM_000218.2:c.905C>A , LRG_287t1:c.905C>A	NP_000209.2:p.Ala302Glu
NM_181798.1:c.524C>A , LRG_287t2:c.524C>A	NP_861463.1:p.Ala175Glu
NM_000218.3:c.905C>A MANE Select	NP_000209.2:p.Ala302Glu