Canonical Allele Identifier: CA008142

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53096
• ClinVar RCV Id: RCV000057751 ; RCV000620025
• dbSNP Id: rs120074179
• MyVariant Identifiers: chr11:g.2593319G>T (hg19) ; chr11:g.2572089G>T (hg38)
• PubMed: PMID:10376919 ; PMID:14678125 ; PMID:16414944 ; PMID:17999538 ; PMID:21059661 ; PMID:22581653

Genomic Alleles

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

Transcript Alleles

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