Canonical Allele Identifier: CA1948242713

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572059C= , CM000673.2:g.2572059C=	GRCh38
NC_000011.9:g.2593289C= , CM000673.1:g.2593289C=	GRCh37
NC_000011.8:g.2549865C=	NCBI36
NG_008935.1:g.132069C= , LRG_287:g.132069C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.469C=	ENSP00000434560.2:p.Gln157=
ENST00000646564.2:c.478-11376C=	ENSP00000495806.2:n.478-11376C=
ENST00000155840.12:c.730C= MANE Select	ENSP00000155840.2:p.Gln244=
ENST00000335475.6:c.349C=	ENSP00000334497.5:p.Gln117=
ENST00000646564.1:c.124-11376C=	ENSP00000495806.1:n.124-11376C=
ENST00000155840.9:c.730C=	ENSP00000155840.2:p.Gln244=
ENST00000335475.5:c.349C=	ENSP00000334497.5:p.Gln117=
ENST00000496887.6:c.469C=	ENSP00000434560.1:p.Gln157=
NM_000218.2:c.730C= , LRG_287t1:c.730C=	NP_000209.2:p.Gln244=
NM_181798.1:c.349C= , LRG_287t2:c.349C=	NP_861463.1:p.Gln117=
NM_000218.3:c.730C= MANE Select	NP_000209.2:p.Gln244=