Canonical Allele Identifier: CA1948212460

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572984G= , CM000673.2:g.2572984G=	GRCh38
NC_000011.9:g.2594214G= , CM000673.1:g.2594214G=	GRCh37
NC_000011.8:g.2550790G=	NCBI36
NG_008935.1:g.132994G= , LRG_287:g.132994G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.919G= MANE Select	NP_000209.2:p.Val307=
ENST00000155840.12:c.919G= MANE Select	ENSP00000155840.2:p.Val307=
NM_000218.2:c.919G= , LRG_287t1:c.919G=	NP_000209.2:p.Val307=
NM_181798.1:c.538G= , LRG_287t2:c.538G=	NP_861463.1:p.Val180=
ENST00000155840.9:c.919G=	ENSP00000155840.2:p.Val307=
ENST00000335475.5:c.538G=	ENSP00000334497.5:p.Val180=
ENST00000335475.6:c.538G=	ENSP00000334497.5:p.Val180=
ENST00000496887.7:c.658G=	ENSP00000434560.2:p.Val220=
ENST00000646564.1:c.124-10451G=	ENSP00000495806.1:n.124-10451G=
ENST00000646564.2:c.478-10451G=	ENSP00000495806.2:n.478-10451G=