Canonical Allele Identifier: CA007911

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53085
• ClinVar RCV Id: RCV000057732 ; RCV000115009 ; RCV000182099 ; RCV001320480 ; RCV003335080
• dbSNP Id: rs199472708
• gnomAD v4: 11-2572015-G-A
• MyVariant Identifiers: chr11:g.2593245G>A (hg19) ; chr11:g.2572015G>A (hg38)
• PubMed: PMID:19165230 ; PMID:22581653 ; PMID:24096004

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572015G>A , CM000673.2:g.2572015G>A	GRCh38
NC_000011.9:g.2593245G>A , CM000673.1:g.2593245G>A	GRCh37
NC_000011.8:g.2549821G>A	NCBI36
NG_008935.1:g.132025G>A , LRG_287:g.132025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.425G>A	ENSP00000434560.2:p.Gly142Asp
ENST00000646564.2:c.478-11420G>A	ENSP00000495806.2:n.478-11420G>A
ENST00000155840.12:c.686G>A MANE Select	ENSP00000155840.2:p.Gly229Asp
ENST00000335475.6:c.305G>A	ENSP00000334497.5:p.Gly102Asp
ENST00000646564.1:c.124-11420G>A	ENSP00000495806.1:n.124-11420G>A
ENST00000155840.9:c.686G>A	ENSP00000155840.2:p.Gly229Asp
ENST00000335475.5:c.305G>A	ENSP00000334497.5:p.Gly102Asp
ENST00000496887.6:c.425G>A	ENSP00000434560.1:p.Gly142Asp
NM_000218.2:c.686G>A , LRG_287t1:c.686G>A	NP_000209.2:p.Gly229Asp
NM_181798.1:c.305G>A , LRG_287t2:c.305G>A	NP_861463.1:p.Gly102Asp
NM_000218.3:c.686G>A MANE Select	NP_000209.2:p.Gly229Asp