Canonical Allele Identifier: CA008159

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67105
• ClinVar RCV Id: RCV000057753 ; RCV001545914 ; RCV001854184
• dbSNP Id: rs199472718
• MyVariant Identifiers: chr11:g.2593332A>C (hg19) ; chr11:g.2572102A>C (hg38)
• PubMed: PMID:20541041 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572102A>C , CM000673.2:g.2572102A>C	GRCh38
NC_000011.9:g.2593332A>C , CM000673.1:g.2593332A>C	GRCh37
NC_000011.8:g.2549908A>C	NCBI36
NG_008935.1:g.132112A>C , LRG_287:g.132112A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.512A>C	ENSP00000434560.2:p.His171Pro
ENST00000646564.2:c.478-11333A>C	ENSP00000495806.2:n.478-11333A>C
ENST00000155840.12:c.773A>C MANE Select	ENSP00000155840.2:p.His258Pro
ENST00000335475.6:c.392A>C	ENSP00000334497.5:p.His131Pro
ENST00000646564.1:c.124-11333A>C	ENSP00000495806.1:n.124-11333A>C
ENST00000155840.9:c.773A>C	ENSP00000155840.2:p.His258Pro
ENST00000335475.5:c.392A>C	ENSP00000334497.5:p.His131Pro
ENST00000496887.6:c.512A>C	ENSP00000434560.1:p.His171Pro
NM_000218.2:c.773A>C , LRG_287t1:c.773A>C	NP_000209.2:p.His258Pro
NM_181798.1:c.392A>C , LRG_287t2:c.392A>C	NP_861463.1:p.His131Pro
NM_000218.3:c.773A>C MANE Select	NP_000209.2:p.His258Pro