Canonical Allele Identifier: CA1948212316

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572967A= , CM000673.2:g.2572967A=	GRCh38
NC_000011.9:g.2594197A= , CM000673.1:g.2594197A=	GRCh37
NC_000011.8:g.2550773A=	NCBI36
NG_008935.1:g.132977A= , LRG_287:g.132977A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.641A=	ENSP00000434560.2:p.Asp214=
ENST00000646564.2:c.478-10468A=	ENSP00000495806.2:n.478-10468A=
ENST00000155840.12:c.902A= MANE Select	ENSP00000155840.2:p.Asp301=
ENST00000335475.6:c.521A=	ENSP00000334497.5:p.Asp174=
ENST00000646564.1:c.124-10468A=	ENSP00000495806.1:n.124-10468A=
ENST00000155840.9:c.902A=	ENSP00000155840.2:p.Asp301=
ENST00000335475.5:c.521A=	ENSP00000334497.5:p.Asp174=
NM_000218.2:c.902A= , LRG_287t1:c.902A=	NP_000209.2:p.Asp301=
NM_181798.1:c.521A= , LRG_287t2:c.521A=	NP_861463.1:p.Asp174=
NM_000218.3:c.902A= MANE Select	NP_000209.2:p.Asp301=