Canonical Allele Identifier: CA008134

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67104
• ClinVar RCV Id: RCV000057750
• dbSNP Id: rs120074179
• MyVariant Identifiers: chr11:g.2593319G>C (hg19) ; chr11:g.2572089G>C (hg38)
• PubMed: PMID:14678125 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572089G>C , CM000673.2:g.2572089G>C	GRCh38
NC_000011.9:g.2593319G>C , CM000673.1:g.2593319G>C	GRCh37
NC_000011.8:g.2549895G>C	NCBI36
NG_008935.1:g.132099G>C , LRG_287:g.132099G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.499G>C	ENSP00000434560.2:p.Val167Leu
ENST00000646564.2:c.478-11346G>C	ENSP00000495806.2:n.478-11346G>C
ENST00000155840.12:c.760G>C MANE Select	ENSP00000155840.2:p.Val254Leu
ENST00000335475.6:c.379G>C	ENSP00000334497.5:p.Val127Leu
ENST00000646564.1:c.124-11346G>C	ENSP00000495806.1:n.124-11346G>C
ENST00000155840.9:c.760G>C	ENSP00000155840.2:p.Val254Leu
ENST00000335475.5:c.379G>C	ENSP00000334497.5:p.Val127Leu
ENST00000496887.6:c.499G>C	ENSP00000434560.1:p.Val167Leu
NM_000218.2:c.760G>C , LRG_287t1:c.760G>C	NP_000209.2:p.Val254Leu
NM_181798.1:c.379G>C , LRG_287t2:c.379G>C	NP_861463.1:p.Val127Leu
NM_000218.3:c.760G>C MANE Select	NP_000209.2:p.Val254Leu