Canonical Allele Identifier: CA1948242469

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571960T= , CM000673.2:g.2571960T=	GRCh38
NC_000011.9:g.2593190T= , CM000673.1:g.2593190T=	GRCh37
NC_000011.8:g.2549766T=	NCBI36
NG_008935.1:g.131970T= , LRG_287:g.131970T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.423-53T=	ENSP00000434560.2:n.423-53T=
ENST00000646564.2:c.478-11475T=	ENSP00000495806.2:n.478-11475T=
ENST00000155840.12:c.684-53T= MANE Select	ENSP00000155840.2:n.684-53T=
ENST00000335475.6:c.303-53T=	ENSP00000334497.5:n.303-53T=
ENST00000646564.1:c.124-11475T=	ENSP00000495806.1:n.124-11475T=
ENST00000155840.9:c.684-53T=	ENSP00000155840.2:n.684-53T=
ENST00000335475.5:c.303-53T=	ENSP00000334497.5:n.303-53T=
ENST00000496887.6:c.423-53T=	ENSP00000434560.1:n.423-53T=
NM_000218.2:c.684-53T= , LRG_287t1:c.684-53T=	NP_000209.2:n.684-53T=
NM_181798.1:c.303-53T= , LRG_287t2:c.303-53T=	NP_861463.1:n.303-53T=
NM_000218.3:c.684-53T= MANE Select	NP_000209.2:n.684-53T=