Canonical Allele Identifier: CA379134656

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587580G>A , CM000673.2:g.2587580G>A	GRCh38
NC_000011.9:g.2608810G>A , CM000673.1:g.2608810G>A	GRCh37
NC_000011.8:g.2565386G>A	NCBI36
NG_008935.1:g.147590G>A , LRG_287:g.147590G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1139G>A MANE Select	NP_000209.2:p.Arg380Lys
ENST00000155840.12:c.1139G>A MANE Select	ENSP00000155840.2:p.Arg380Lys
NM_000218.2:c.1139G>A , LRG_287t1:c.1139G>A	NP_000209.2:p.Arg380Lys
NM_181798.1:c.758G>A , LRG_287t2:c.758G>A	NP_861463.1:p.Arg253Lys
ENST00000155840.9:c.1139G>A	ENSP00000155840.2:p.Arg380Lys
ENST00000335475.5:c.758G>A	ENSP00000334497.5:p.Arg253Lys
ENST00000335475.6:c.758G>A	ENSP00000334497.5:p.Arg253Lys
ENST00000496887.7:c.782G>A	ENSP00000434560.2:p.Arg261Lys
ENST00000646564.1:c.245G>A	ENSP00000495806.1:p.Arg82Lys
ENST00000646564.2:c.599G>A	ENSP00000495806.2:p.Arg200Lys