Canonical Allele Identifier: CA369858768

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951702A>T , CM000669.2:g.150951702A>T	GRCh38
NC_000007.13:g.150648790A>T , CM000669.1:g.150648790A>T	GRCh37
NC_000007.12:g.150279723A>T	NCBI36
NG_008916.1:g.31225T>A , LRG_288:g.31225T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1691T>A MANE Select	NP_000229.1:p.Leu564Gln
ENST00000262186.10:c.1691T>A MANE Select	ENSP00000262186.5:p.Leu564Gln
NM_000238.3:c.1691T>A , LRG_288t1:c.1691T>A	NP_000229.1:p.Leu564Gln
NM_001204798.1:c.671T>A	NP_001191727.1:p.Leu224Gln
NM_001204798.2:c.671T>A	NP_001191727.1:p.Leu224Gln
NM_172056.2:c.1691T>A , LRG_288t2:c.1691T>A	NP_742053.1:p.Leu564Gln
NM_172057.2:c.671T>A , LRG_288t3:c.671T>A	NP_742054.1:p.Leu224Gln
NM_172057.3:c.671T>A	NP_742054.1:p.Leu224Gln
ENST00000262186.9:c.1691T>A	ENSP00000262186.5:p.Leu564Gln
ENST00000330883.8:c.671T>A	ENSP00000328531.4:p.Leu224Gln
ENST00000330883.9:c.671T>A	ENSP00000328531.4:p.Leu224Gln
ENST00000430723.4:c.1343T>A	ENSP00000387657.4:p.Leu448Gln
ENST00000461280.1:n.978T>A
ENST00000461280.2:n.989T>A
ENST00000473610.5:n.996T>A
ENST00000532957.5:n.1914T>A
ENST00000684241.1:n.2524T>A
XM_011516185.1:c.1391T>A	XP_011514487.1:p.Leu464Gln
XM_011516185.2:c.1391T>A	XP_011514487.1:p.Leu464Gln
XM_011516186.1:c.1691T>A	XP_011514488.1:p.Leu564Gln
XM_011516186.3:c.1691T>A	XP_011514488.1:p.Leu564Gln
XM_017012195.1:c.1541T>A	XP_016867684.1:p.Leu514Gln
XM_017012196.1:c.1514T>A	XP_016867685.1:p.Leu505Gln