Canonical Allele Identifier: CA008856

Gene: KCNQ1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583460G>T , CM000673.2:g.2583460G>T	GRCh38
NC_000011.9:g.2604690G>T , CM000673.1:g.2604690G>T	GRCh37
NC_000011.8:g.2561266G>T	NCBI36
NG_008935.1:g.143470G>T , LRG_287:g.143470G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.686G>T	ENSP00000434560.2:p.Gly229Val
ENST00000646564.2:c.503G>T	ENSP00000495806.2:p.Gly168Val
ENST00000155840.12:c.947G>T MANE Select	ENSP00000155840.2:p.Gly316Val
ENST00000335475.6:c.566G>T	ENSP00000334497.5:p.Gly189Val
ENST00000646564.1:c.149G>T	ENSP00000495806.1:p.Gly50Val
ENST00000155840.9:c.947G>T	ENSP00000155840.2:p.Gly316Val
ENST00000335475.5:c.566G>T	ENSP00000334497.5:p.Gly189Val
NM_000218.2:c.947G>T , LRG_287t1:c.947G>T	NP_000209.2:p.Gly316Val
NM_181798.1:c.566G>T , LRG_287t2:c.566G>T	NP_861463.1:p.Gly189Val
NM_000218.3:c.947G>T MANE Select	NP_000209.2:p.Gly316Val