Canonical Allele Identifier: CA1948236108

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588805A= , CM000673.2:g.2588805A=	GRCh38
NC_000011.9:g.2610035A= , CM000673.1:g.2610035A=	GRCh37
NC_000011.8:g.2566611A=	NCBI36
NG_008935.1:g.148815A= , LRG_287:g.148815A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.987A=	ENSP00000434560.2:p.Pro329=
ENST00000646564.2:c.804A=	ENSP00000495806.2:p.Pro268=
ENST00000155840.12:c.1344A= MANE Select	ENSP00000155840.2:p.Pro448=
ENST00000335475.6:c.963A=	ENSP00000334497.5:p.Pro321=
ENST00000646564.1:c.450A=	ENSP00000495806.1:p.Pro150=
ENST00000155840.9:c.1344A=	ENSP00000155840.2:p.Pro448=
ENST00000335475.5:c.963A=	ENSP00000334497.5:p.Pro321=
NM_000218.2:c.1344A= , LRG_287t1:c.1344A=	NP_000209.2:p.Pro448=
NM_181798.1:c.963A= , LRG_287t2:c.963A=	NP_861463.1:p.Pro321=
NM_000218.3:c.1344A= MANE Select	NP_000209.2:p.Pro448=