Canonical Allele Identifier: CA004672

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952511C>T , CM000669.2:g.150952511C>T	GRCh38
NC_000007.13:g.150649599C>T , CM000669.1:g.150649599C>T	GRCh37
NC_000007.12:g.150280532C>T	NCBI36
NG_008916.1:g.30416G>A , LRG_288:g.30416G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.769G>A
ENST00000684116.1:n.364G>A
ENST00000684241.1:n.2304G>A
ENST00000262186.10:c.1471G>A MANE Select	ENSP00000262186.5:p.Val491Ile
ENST00000330883.9:c.451G>A	ENSP00000328531.4:p.Val151Ile
ENST00000262186.9:c.1471G>A	ENSP00000262186.5:p.Val491Ile
ENST00000330883.8:c.451G>A	ENSP00000328531.4:p.Val151Ile
ENST00000430723.4:c.1123G>A	ENSP00000387657.4:p.Val375Ile
ENST00000461280.1:n.758G>A
ENST00000473610.5:n.776G>A
ENST00000532957.5:n.1694G>A
NM_000238.3:c.1471G>A , LRG_288t1:c.1471G>A	NP_000229.1:p.Val491Ile
NM_001204798.1:c.451G>A	NP_001191727.1:p.Val151Ile
NM_172056.2:c.1471G>A , LRG_288t2:c.1471G>A	NP_742053.1:p.Val491Ile
NM_172057.2:c.451G>A , LRG_288t3:c.451G>A	NP_742054.1:p.Val151Ile
XM_011516185.1:c.1171G>A	XP_011514487.1:p.Val391Ile
XM_011516186.1:c.1471G>A	XP_011514488.1:p.Val491Ile
XM_011516185.2:c.1171G>A	XP_011514487.1:p.Val391Ile
XM_011516186.3:c.1471G>A	XP_011514488.1:p.Val491Ile
XM_017012195.1:c.1321G>A	XP_016867684.1:p.Val441Ile
XM_017012196.1:c.1294G>A	XP_016867685.1:p.Val432Ile
NM_000238.4:c.1471G>A MANE Select	NP_000229.1:p.Val491Ile
NM_001204798.2:c.451G>A	NP_001191727.1:p.Val151Ile
NM_172057.3:c.451G>A	NP_742054.1:p.Val151Ile