Canonical Allele Identifier: CA379139069

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2775966C>G , CM000673.2:g.2775966C>G	GRCh38
NC_000011.9:g.2797196C>G , CM000673.1:g.2797196C>G	GRCh37
NC_000011.8:g.2753772C>G	NCBI36
NG_008935.1:g.335976C>G , LRG_287:g.335976C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1597C>G MANE Select	NP_000209.2:p.Arg533Gly
ENST00000155840.12:c.1597C>G MANE Select	ENSP00000155840.2:p.Arg533Gly
NM_000218.2:c.1597C>G , LRG_287t1:c.1597C>G	NP_000209.2:p.Arg533Gly
NM_181798.1:c.1216C>G , LRG_287t2:c.1216C>G	NP_861463.1:p.Arg406Gly
ENST00000155840.9:c.1597C>G	ENSP00000155840.2:p.Arg533Gly
ENST00000335475.5:c.1216C>G	ENSP00000334497.5:p.Arg406Gly
ENST00000335475.6:c.1216C>G	ENSP00000334497.5:p.Arg406Gly
ENST00000496887.7:c.1240C>G	ENSP00000434560.2:p.Arg414Gly
ENST00000646564.1:c.703C>G	ENSP00000495806.1:p.Arg235Gly
ENST00000646564.2:c.1057C>G	ENSP00000495806.2:p.Arg353Gly