Canonical Allele Identifier: CA1948310068

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768900T= , CM000673.2:g.2768900T=	GRCh38
NC_000011.9:g.2790130T= , CM000673.1:g.2790130T=	GRCh37
NC_000011.8:g.2746706T=	NCBI36
NG_008935.1:g.328910T= , LRG_287:g.328910T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1214T=	ENSP00000434560.2:p.Val405=
ENST00000646564.2:c.1031T=	ENSP00000495806.2:p.Val344=
ENST00000155840.12:c.1571T= MANE Select	ENSP00000155840.2:p.Val524=
ENST00000335475.6:c.1190T=	ENSP00000334497.5:p.Val397=
ENST00000646564.1:c.677T=	ENSP00000495806.1:p.Val226=
ENST00000155840.9:c.1571T=	ENSP00000155840.2:p.Val524=
ENST00000335475.5:c.1190T=	ENSP00000334497.5:p.Val397=
NM_000218.2:c.1571T= , LRG_287t1:c.1571T=	NP_000209.2:p.Val524=
NM_181798.1:c.1190T= , LRG_287t2:c.1190T=	NP_861463.1:p.Val397=
NM_000218.3:c.1571T= MANE Select	NP_000209.2:p.Val524=