Canonical Allele Identifier: CA1948242652

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572031G= , CM000673.2:g.2572031G=	GRCh38
NC_000011.9:g.2593261G= , CM000673.1:g.2593261G=	GRCh37
NC_000011.8:g.2549837G=	NCBI36
NG_008935.1:g.132041G= , LRG_287:g.132041G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.441G=	ENSP00000434560.2:p.Gln147=
ENST00000646564.2:c.478-11404G=	ENSP00000495806.2:n.478-11404G=
ENST00000155840.12:c.702G= MANE Select	ENSP00000155840.2:p.Gln234=
ENST00000335475.6:c.321G=	ENSP00000334497.5:p.Gln107=
ENST00000646564.1:c.124-11404G=	ENSP00000495806.1:n.124-11404G=
ENST00000155840.9:c.702G=	ENSP00000155840.2:p.Gln234=
ENST00000335475.5:c.321G=	ENSP00000334497.5:p.Gln107=
ENST00000496887.6:c.441G=	ENSP00000434560.1:p.Gln147=
NM_000218.2:c.702G= , LRG_287t1:c.702G=	NP_000209.2:p.Gln234=
NM_181798.1:c.321G= , LRG_287t2:c.321G=	NP_861463.1:p.Gln107=
NM_000218.3:c.702G= MANE Select	NP_000209.2:p.Gln234=