Canonical Allele Identifier: CA1948233208

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587613C= , CM000673.2:g.2587613C=	GRCh38
NC_000011.9:g.2608843C= , CM000673.1:g.2608843C=	GRCh37
NC_000011.8:g.2565419C=	NCBI36
NG_008935.1:g.147623C= , LRG_287:g.147623C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.815C=	ENSP00000434560.2:p.Thr272=
ENST00000646564.2:c.632C=	ENSP00000495806.2:p.Thr211=
ENST00000155840.12:c.1172C= MANE Select	ENSP00000155840.2:p.Thr391=
ENST00000335475.6:c.791C=	ENSP00000334497.5:p.Thr264=
ENST00000646564.1:c.278C=	ENSP00000495806.1:p.Thr93=
ENST00000155840.9:c.1172C=	ENSP00000155840.2:p.Thr391=
ENST00000335475.5:c.791C=	ENSP00000334497.5:p.Thr264=
NM_000218.2:c.1172C= , LRG_287t1:c.1172C=	NP_000209.2:p.Thr391=
NM_181798.1:c.791C= , LRG_287t2:c.791C=	NP_861463.1:p.Thr264=
NM_000218.3:c.1172C= MANE Select	NP_000209.2:p.Thr391=