Canonical Allele Identifier: CA379132986

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604693A>T (hg19) ; chr11:g.2583463A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.689A>T	ENSP00000434560.2:p.Asp230Val
ENST00000646564.2:c.506A>T	ENSP00000495806.2:p.Asp169Val
ENST00000155840.12:c.950A>T MANE Select	ENSP00000155840.2:p.Asp317Val
ENST00000335475.6:c.569A>T	ENSP00000334497.5:p.Asp190Val
ENST00000646564.1:c.152A>T	ENSP00000495806.1:p.Asp51Val
ENST00000155840.9:c.950A>T	ENSP00000155840.2:p.Asp317Val
ENST00000335475.5:c.569A>T	ENSP00000334497.5:p.Asp190Val
NM_000218.2:c.950A>T , LRG_287t1:c.950A>T	NP_000209.2:p.Asp317Val
NM_181798.1:c.569A>T , LRG_287t2:c.569A>T	NP_861463.1:p.Asp190Val
NM_000218.3:c.950A>T MANE Select	NP_000209.2:p.Asp317Val