Canonical Allele Identifier: CA1948315111

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778011G= , CM000673.2:g.2778011G=	GRCh38
NC_000011.9:g.2799241G= , CM000673.1:g.2799241G=	GRCh37
NC_000011.8:g.2755817G=	NCBI36
NG_008935.1:g.338021G= , LRG_287:g.338021G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1411G=	ENSP00000434560.2:p.Ala471=
ENST00000646564.2:c.1228G=	ENSP00000495806.2:p.Ala410=
ENST00000155840.12:c.1768G= MANE Select	ENSP00000155840.2:p.Ala590=
ENST00000335475.6:c.1387G=	ENSP00000334497.5:p.Ala463=
ENST00000526095.2:c.172G=	ENSP00000494939.1:p.Ala58=
ENST00000646564.1:c.874G=	ENSP00000495806.1:p.Ala292=
ENST00000155840.9:c.1768G=	ENSP00000155840.2:p.Ala590=
ENST00000335475.5:c.1387G=	ENSP00000334497.5:p.Ala463=
ENST00000526095.1:n.275G=
NM_000218.2:c.1768G= , LRG_287t1:c.1768G=	NP_000209.2:p.Ala590=
NM_181798.1:c.1387G= , LRG_287t2:c.1387G=	NP_861463.1:p.Ala463=
NM_000218.3:c.1768G= MANE Select	NP_000209.2:p.Ala590=