Canonical Allele Identifier: CA369860030

Gene: KCNH2

Linked Data

• COSMIC: COSM138661
• MyVariant Identifiers: chr7:g.150649767C>T (hg19) ; chr7:g.150952679C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952679C>T , CM000669.2:g.150952679C>T	GRCh38
NC_000007.13:g.150649767C>T , CM000669.1:g.150649767C>T	GRCh37
NC_000007.12:g.150280700C>T	NCBI36
NG_008916.1:g.30248G>A , LRG_288:g.30248G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.601G>A
ENST00000684116.1:n.196G>A
ENST00000684241.1:n.2136G>A
ENST00000262186.10:c.1303G>A MANE Select	ENSP00000262186.5:p.Glu435Lys
ENST00000330883.9:c.283G>A	ENSP00000328531.4:p.Glu95Lys
ENST00000262186.9:c.1303G>A	ENSP00000262186.5:p.Glu435Lys
ENST00000330883.8:c.283G>A	ENSP00000328531.4:p.Glu95Lys
ENST00000430723.4:c.955G>A	ENSP00000387657.4:p.Glu319Lys
ENST00000461280.1:n.590G>A
ENST00000473610.5:n.608G>A
ENST00000532957.5:n.1526G>A
NM_000238.3:c.1303G>A , LRG_288t1:c.1303G>A	NP_000229.1:p.Glu435Lys
NM_001204798.1:c.283G>A	NP_001191727.1:p.Glu95Lys
NM_172056.2:c.1303G>A , LRG_288t2:c.1303G>A	NP_742053.1:p.Glu435Lys
NM_172057.2:c.283G>A , LRG_288t3:c.283G>A	NP_742054.1:p.Glu95Lys
XM_011516185.1:c.1003G>A	XP_011514487.1:p.Glu335Lys
XM_011516186.1:c.1303G>A	XP_011514488.1:p.Glu435Lys
XM_011516185.2:c.1003G>A	XP_011514487.1:p.Glu335Lys
XM_011516186.3:c.1303G>A	XP_011514488.1:p.Glu435Lys
XM_017012195.1:c.1153G>A	XP_016867684.1:p.Glu385Lys
XM_017012196.1:c.1126G>A	XP_016867685.1:p.Glu376Lys
NM_000238.4:c.1303G>A MANE Select	NP_000229.1:p.Glu435Lys
NM_001204798.2:c.283G>A	NP_001191727.1:p.Glu95Lys
NM_172057.3:c.283G>A	NP_742054.1:p.Glu95Lys