Canonical Allele Identifier: CA379139149

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776003A>T , CM000673.2:g.2776003A>T	GRCh38
NC_000011.9:g.2797233A>T , CM000673.1:g.2797233A>T	GRCh37
NC_000011.8:g.2753809A>T	NCBI36
NG_008935.1:g.336013A>T , LRG_287:g.336013A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1634A>T MANE Select	NP_000209.2:p.Tyr545Phe
ENST00000155840.12:c.1634A>T MANE Select	ENSP00000155840.2:p.Tyr545Phe
NM_000218.2:c.1634A>T , LRG_287t1:c.1634A>T	NP_000209.2:p.Tyr545Phe
NM_181798.1:c.1253A>T , LRG_287t2:c.1253A>T	NP_861463.1:p.Tyr418Phe
ENST00000155840.9:c.1634A>T	ENSP00000155840.2:p.Tyr545Phe
ENST00000335475.5:c.1253A>T	ENSP00000334497.5:p.Tyr418Phe
ENST00000335475.6:c.1253A>T	ENSP00000334497.5:p.Tyr418Phe
ENST00000496887.7:c.1277A>T	ENSP00000434560.2:p.Tyr426Phe
ENST00000646564.1:c.740A>T	ENSP00000495806.1:p.Tyr247Phe
ENST00000646564.2:c.1094A>T	ENSP00000495806.2:p.Tyr365Phe