Canonical Allele Identifier: CA1948160876

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445218G= , CM000673.2:g.2445218G=	GRCh38
NC_000011.9:g.2466448G= , CM000673.1:g.2466448G=	GRCh37
NC_000011.8:g.2423024G=	NCBI36
NG_008935.1:g.5228G= , LRG_287:g.5228G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.24-165G=	ENSP00000434560.2:n.24-165G=
ENST00000646564.2:c.120G=	ENSP00000495806.2:p.Leu40=
ENST00000155840.12:c.120G= MANE Select	ENSP00000155840.2:p.Leu40=
ENST00000155840.9:c.120G=	ENSP00000155840.2:p.Leu40=
ENST00000496887.6:c.24-165G=	ENSP00000434560.1:n.24-165G=
NM_000218.2:c.120G= , LRG_287t1:c.120G=	NP_000209.2:p.Leu40=
NM_000218.3:c.120G= MANE Select	NP_000209.2:p.Leu40=