Canonical Allele Identifier: CA008278

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572870G>A , CM000673.2:g.2572870G>A	GRCh38
NC_000011.9:g.2594100G>A , CM000673.1:g.2594100G>A	GRCh37
NC_000011.8:g.2550676G>A	NCBI36
NG_008935.1:g.132880G>A , LRG_287:g.132880G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.805G>A MANE Select	NP_000209.2:p.Gly269Ser
ENST00000155840.12:c.805G>A MANE Select	ENSP00000155840.2:p.Gly269Ser
NM_000218.2:c.805G>A , LRG_287t1:c.805G>A	NP_000209.2:p.Gly269Ser
NM_181798.1:c.424G>A , LRG_287t2:c.424G>A	NP_861463.1:p.Gly142Ser
ENST00000155840.9:c.805G>A	ENSP00000155840.2:p.Gly269Ser
ENST00000335475.5:c.424G>A	ENSP00000334497.5:p.Gly142Ser
ENST00000335475.6:c.424G>A	ENSP00000334497.5:p.Gly142Ser
ENST00000496887.6:c.544G>A	ENSP00000434560.1:p.Gly182Ser
ENST00000496887.7:c.544G>A	ENSP00000434560.2:p.Gly182Ser
ENST00000646564.1:c.124-10565G>A	ENSP00000495806.1:n.124-10565G>A
ENST00000646564.2:c.478-10565G>A	ENSP00000495806.2:n.478-10565G>A