Canonical Allele Identifier: CA369859637

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649575G>A (hg19) ; chr7:g.150952487G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952487G>A , CM000669.2:g.150952487G>A	GRCh38
NC_000007.13:g.150649575G>A , CM000669.1:g.150649575G>A	GRCh37
NC_000007.12:g.150280508G>A	NCBI36
NG_008916.1:g.30440C>T , LRG_288:g.30440C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.793C>T
ENST00000684116.1:n.388C>T
ENST00000684241.1:n.2328C>T
ENST00000262186.10:c.1495C>T MANE Select	ENSP00000262186.5:p.Leu499Phe
ENST00000330883.9:c.475C>T	ENSP00000328531.4:p.Leu159Phe
ENST00000262186.9:c.1495C>T	ENSP00000262186.5:p.Leu499Phe
ENST00000330883.8:c.475C>T	ENSP00000328531.4:p.Leu159Phe
ENST00000430723.4:c.1147C>T	ENSP00000387657.4:p.Leu383Phe
ENST00000461280.1:n.782C>T
ENST00000473610.5:n.800C>T
ENST00000532957.5:n.1718C>T
NM_000238.3:c.1495C>T , LRG_288t1:c.1495C>T	NP_000229.1:p.Leu499Phe
NM_001204798.1:c.475C>T	NP_001191727.1:p.Leu159Phe
NM_172056.2:c.1495C>T , LRG_288t2:c.1495C>T	NP_742053.1:p.Leu499Phe
NM_172057.2:c.475C>T , LRG_288t3:c.475C>T	NP_742054.1:p.Leu159Phe
XM_011516185.1:c.1195C>T	XP_011514487.1:p.Leu399Phe
XM_011516186.1:c.1495C>T	XP_011514488.1:p.Leu499Phe
XM_011516185.2:c.1195C>T	XP_011514487.1:p.Leu399Phe
XM_011516186.3:c.1495C>T	XP_011514488.1:p.Leu499Phe
XM_017012195.1:c.1345C>T	XP_016867684.1:p.Leu449Phe
XM_017012196.1:c.1318C>T	XP_016867685.1:p.Leu440Phe
NM_000238.4:c.1495C>T MANE Select	NP_000229.1:p.Leu499Phe
NM_001204798.2:c.475C>T	NP_001191727.1:p.Leu159Phe
NM_172057.3:c.475C>T	NP_742054.1:p.Leu159Phe