Canonical Allele Identifier: CA1948174999

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2468112C= , CM000673.2:g.2468112C=	GRCh38
NC_000011.9:g.2489342C= , CM000673.1:g.2489342C=	GRCh37
NC_000011.8:g.2445918C=	NCBI36
NG_008935.1:g.28122C= , LRG_287:g.28122C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.386+22628C= MANE Select	NP_000209.2:n.386+22628C=
ENST00000155840.12:c.386+22628C= MANE Select	ENSP00000155840.2:n.386+22628C=
NM_000218.2:c.386+22628C= , LRG_287t1:c.386+22628C=	NP_000209.2:n.386+22628C=
NM_181798.1:c.5+6398C= , LRG_287t2:c.5+6398C=	NP_861463.1:n.5+6398C=
ENST00000155840.9:c.386+22628C=	ENSP00000155840.2:n.386+22628C=
ENST00000335475.5:c.5+6398C=	ENSP00000334497.5:n.5+6398C=
ENST00000335475.6:c.5+6398C=	ENSP00000334497.5:n.5+6398C=
ENST00000345015.4:n.163+22628C=
ENST00000380776.4:c.84+6135C=	ENSP00000370153.4:n.84+6135C=
ENST00000380776.5:n.91+6135C=
ENST00000496887.6:c.125+22628C=	ENSP00000434560.1:n.125+22628C=
ENST00000496887.7:c.125+22628C=	ENSP00000434560.2:n.125+22628C=
ENST00000646564.1:c.32+22628C=	ENSP00000495806.1:n.32+22628C=
ENST00000646564.2:c.386+22628C=	ENSP00000495806.2:n.386+22628C=