Canonical Allele Identifier: CA1948242708

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572054A= , CM000673.2:g.2572054A=	GRCh38
NC_000011.9:g.2593284A= , CM000673.1:g.2593284A=	GRCh37
NC_000011.8:g.2549860A=	NCBI36
NG_008935.1:g.132064A= , LRG_287:g.132064A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.464A=	ENSP00000434560.2:p.Asp155=
ENST00000646564.2:c.478-11381A=	ENSP00000495806.2:n.478-11381A=
ENST00000155840.12:c.725A= MANE Select	ENSP00000155840.2:p.Asp242=
ENST00000335475.6:c.344A=	ENSP00000334497.5:p.Asp115=
ENST00000646564.1:c.124-11381A=	ENSP00000495806.1:n.124-11381A=
ENST00000155840.9:c.725A=	ENSP00000155840.2:p.Asp242=
ENST00000335475.5:c.344A=	ENSP00000334497.5:p.Asp115=
ENST00000496887.6:c.464A=	ENSP00000434560.1:p.Asp155=
NM_000218.2:c.725A= , LRG_287t1:c.725A=	NP_000209.2:p.Asp242=
NM_181798.1:c.344A= , LRG_287t2:c.344A=	NP_861463.1:p.Asp115=
NM_000218.3:c.725A= MANE Select	NP_000209.2:p.Asp242=