Canonical Allele Identifier: CA1948212348

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572973T= , CM000673.2:g.2572973T=	GRCh38
NC_000011.9:g.2594203T= , CM000673.1:g.2594203T=	GRCh37
NC_000011.8:g.2550779T=	NCBI36
NG_008935.1:g.132983T= , LRG_287:g.132983T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.647T=	ENSP00000434560.2:p.Leu216=
ENST00000646564.2:c.478-10462T=	ENSP00000495806.2:n.478-10462T=
ENST00000155840.12:c.908T= MANE Select	ENSP00000155840.2:p.Leu303=
ENST00000335475.6:c.527T=	ENSP00000334497.5:p.Leu176=
ENST00000646564.1:c.124-10462T=	ENSP00000495806.1:n.124-10462T=
ENST00000155840.9:c.908T=	ENSP00000155840.2:p.Leu303=
ENST00000335475.5:c.527T=	ENSP00000334497.5:p.Leu176=
NM_000218.2:c.908T= , LRG_287t1:c.908T=	NP_000209.2:p.Leu303=
NM_181798.1:c.527T= , LRG_287t2:c.527T=	NP_861463.1:p.Leu176=
NM_000218.3:c.908T= MANE Select	NP_000209.2:p.Leu303=