Canonical Allele Identifier: CA008793

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53138
• ClinVar RCV Id: RCV000057813 ; RCV001555578 ; RCV002444509 ; RCV002514226
• dbSNP Id: rs199472748
• MyVariant Identifiers: chr11:g.2604684G>A (hg19) ; chr11:g.2583454G>A (hg38)
• PubMed: PMID:12566525 ; PMID:15466642 ; PMID:15840476 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583454G>A , CM000673.2:g.2583454G>A	GRCh38
NC_000011.9:g.2604684G>A , CM000673.1:g.2604684G>A	GRCh37
NC_000011.8:g.2561260G>A	NCBI36
NG_008935.1:g.143464G>A , LRG_287:g.143464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.680G>A	ENSP00000434560.2:p.Gly227Asp
ENST00000646564.2:c.497G>A	ENSP00000495806.2:p.Gly166Asp
ENST00000155840.12:c.941G>A MANE Select	ENSP00000155840.2:p.Gly314Asp
ENST00000335475.6:c.560G>A	ENSP00000334497.5:p.Gly187Asp
ENST00000646564.1:c.143G>A	ENSP00000495806.1:p.Gly48Asp
ENST00000155840.9:c.941G>A	ENSP00000155840.2:p.Gly314Asp
ENST00000335475.5:c.560G>A	ENSP00000334497.5:p.Gly187Asp
NM_000218.2:c.941G>A , LRG_287t1:c.941G>A	NP_000209.2:p.Gly314Asp
NM_181798.1:c.560G>A , LRG_287t2:c.560G>A	NP_861463.1:p.Gly187Asp
NM_000218.3:c.941G>A MANE Select	NP_000209.2:p.Gly314Asp