Canonical Allele Identifier: CA1948212305

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572965A= , CM000673.2:g.2572965A=	GRCh38
NC_000011.9:g.2594195A= , CM000673.1:g.2594195A=	GRCh37
NC_000011.8:g.2550771A=	NCBI36
NG_008935.1:g.132975A= , LRG_287:g.132975A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.639A=	ENSP00000434560.2:p.Ala213=
ENST00000646564.2:c.478-10470A=	ENSP00000495806.2:n.478-10470A=
ENST00000155840.12:c.900A= MANE Select	ENSP00000155840.2:p.Ala300=
ENST00000335475.6:c.519A=	ENSP00000334497.5:p.Ala173=
ENST00000646564.1:c.124-10470A=	ENSP00000495806.1:n.124-10470A=
ENST00000155840.9:c.900A=	ENSP00000155840.2:p.Ala300=
ENST00000335475.5:c.519A=	ENSP00000334497.5:p.Ala173=
NM_000218.2:c.900A= , LRG_287t1:c.900A=	NP_000209.2:p.Ala300=
NM_181798.1:c.519A= , LRG_287t2:c.519A=	NP_861463.1:p.Ala173=
NM_000218.3:c.900A= MANE Select	NP_000209.2:p.Ala300=