Canonical Allele Identifier: CA008884

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67129
• ClinVar RCV Id: RCV000057824 ; RCV001206137 ; RCV001507785
• dbSNP Id: rs199472750
• MyVariant Identifiers: chr11:g.2604693A>G (hg19) ; chr11:g.2583463A>G (hg38)
• PubMed: PMID:14678125 ; PMID:17470695 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583463A>G , CM000673.2:g.2583463A>G	GRCh38
NC_000011.9:g.2604693A>G , CM000673.1:g.2604693A>G	GRCh37
NC_000011.8:g.2561269A>G	NCBI36
NG_008935.1:g.143473A>G , LRG_287:g.143473A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.689A>G	ENSP00000434560.2:p.Asp230Gly
ENST00000646564.2:c.506A>G	ENSP00000495806.2:p.Asp169Gly
ENST00000155840.12:c.950A>G MANE Select	ENSP00000155840.2:p.Asp317Gly
ENST00000335475.6:c.569A>G	ENSP00000334497.5:p.Asp190Gly
ENST00000646564.1:c.152A>G	ENSP00000495806.1:p.Asp51Gly
ENST00000155840.9:c.950A>G	ENSP00000155840.2:p.Asp317Gly
ENST00000335475.5:c.569A>G	ENSP00000334497.5:p.Asp190Gly
NM_000218.2:c.950A>G , LRG_287t1:c.950A>G	NP_000209.2:p.Asp317Gly
NM_181798.1:c.569A>G , LRG_287t2:c.569A>G	NP_861463.1:p.Asp190Gly
NM_000218.3:c.950A>G MANE Select	NP_000209.2:p.Asp317Gly