Canonical Allele Identifier: CA1948224864

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583474C= , CM000673.2:g.2583474C=	GRCh38
NC_000011.9:g.2604704C= , CM000673.1:g.2604704C=	GRCh37
NC_000011.8:g.2561280C=	NCBI36
NG_008935.1:g.143484C= , LRG_287:g.143484C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.700C=	ENSP00000434560.2:p.Gln234=
ENST00000646564.2:c.517C=	ENSP00000495806.2:p.Gln173=
ENST00000155840.12:c.961C= MANE Select	ENSP00000155840.2:p.Gln321=
ENST00000335475.6:c.580C=	ENSP00000334497.5:p.Gln194=
ENST00000646564.1:c.163C=	ENSP00000495806.1:p.Gln55=
ENST00000155840.9:c.961C=	ENSP00000155840.2:p.Gln321=
ENST00000335475.5:c.580C=	ENSP00000334497.5:p.Gln194=
NM_000218.2:c.961C= , LRG_287t1:c.961C=	NP_000209.2:p.Gln321=
NM_181798.1:c.580C= , LRG_287t2:c.580C=	NP_861463.1:p.Gln194=
NM_000218.3:c.961C= MANE Select	NP_000209.2:p.Gln321=