Canonical Allele Identifier: CA008018

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53092
• ClinVar RCV Id: RCV000057742 ; RCV001807770 ; RCV002381343 ; RCV001385528 ; RCV001841652 ; RCV004542713 ; RCV003482908
• dbSNP Id: rs120074196
• gnomAD v2: 11-2593287-G-A
• gnomAD v3: 11-2572057-G-A
• gnomAD v4: 11-2572057-G-A
• MyVariant Identifiers: chr11:g.2593287G>A (hg19) ; chr11:g.2572057G>A (hg38)
• PubMed: PMID:9482580 ; PMID:10090886 ; PMID:10409658 ; PMID:10728423 ; PMID:11140949 ; PMID:11530100 ; PMID:15028050 ; PMID:15746441 ; PMID:15935335 ; PMID:18174212 ; PMID:19843919 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572057G>A , CM000673.2:g.2572057G>A	GRCh38
NC_000011.9:g.2593287G>A , CM000673.1:g.2593287G>A	GRCh37
NC_000011.8:g.2549863G>A	NCBI36
NG_008935.1:g.132067G>A , LRG_287:g.132067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.467G>A	ENSP00000434560.2:p.Arg156His
ENST00000646564.2:c.478-11378G>A	ENSP00000495806.2:n.478-11378G>A
ENST00000155840.12:c.728G>A MANE Select	ENSP00000155840.2:p.Arg243His
ENST00000335475.6:c.347G>A	ENSP00000334497.5:p.Arg116His
ENST00000646564.1:c.124-11378G>A	ENSP00000495806.1:n.124-11378G>A
ENST00000155840.9:c.728G>A	ENSP00000155840.2:p.Arg243His
ENST00000335475.5:c.347G>A	ENSP00000334497.5:p.Arg116His
ENST00000496887.6:c.467G>A	ENSP00000434560.1:p.Arg156His
NM_000218.2:c.728G>A , LRG_287t1:c.728G>A	NP_000209.2:p.Arg243His
NM_181798.1:c.347G>A , LRG_287t2:c.347G>A	NP_861463.1:p.Arg116His
NM_000218.3:c.728G>A MANE Select	NP_000209.2:p.Arg243His