Canonical Allele Identifier: CA032686

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778008G>A , CM000673.2:g.2778008G>A	GRCh38
NC_000011.9:g.2799238G>A , CM000673.1:g.2799238G>A	GRCh37
NC_000011.8:g.2755814G>A	NCBI36
NG_008935.1:g.338018G>A , LRG_287:g.338018G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1765G>A MANE Select	NP_000209.2:p.Gly589Ser
ENST00000155840.12:c.1765G>A MANE Select	ENSP00000155840.2:p.Gly589Ser
NM_000218.2:c.1765G>A , LRG_287t1:c.1765G>A	NP_000209.2:p.Gly589Ser
NM_181798.1:c.1384G>A , LRG_287t2:c.1384G>A	NP_861463.1:p.Gly462Ser
ENST00000155840.9:c.1765G>A	ENSP00000155840.2:p.Gly589Ser
ENST00000335475.5:c.1384G>A	ENSP00000334497.5:p.Gly462Ser
ENST00000335475.6:c.1384G>A	ENSP00000334497.5:p.Gly462Ser
ENST00000496887.7:c.1408G>A	ENSP00000434560.2:p.Gly470Ser
ENST00000526095.1:n.272G>A
ENST00000526095.2:c.169G>A	ENSP00000494939.1:p.Gly57Ser
ENST00000646564.1:c.871G>A	ENSP00000495806.1:p.Gly291Ser
ENST00000646564.2:c.1225G>A	ENSP00000495806.2:p.Gly409Ser