Canonical Allele Identifier: CA458644598

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945488C>T , CM000669.2:g.150945488C>T	GRCh38
NC_000007.13:g.150642576C>T , CM000669.1:g.150642576C>T	GRCh37
NC_000007.12:g.150273509C>T	NCBI36
NG_008916.1:g.37439G>A , LRG_288:g.37439G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.3357G>A MANE Select	NP_000229.1:p.Glu1119=
ENST00000262186.10:c.3357G>A MANE Select	ENSP00000262186.5:p.Glu1119=
NM_000238.3:c.3357G>A , LRG_288t1:c.3357G>A	NP_000229.1:p.Glu1119=
NM_172057.2:c.2337G>A , LRG_288t3:c.2337G>A	NP_742054.1:p.Glu779=
NM_172057.3:c.2337G>A	NP_742054.1:p.Glu779=
ENST00000262186.9:c.3357G>A	ENSP00000262186.5:p.Glu1119=
ENST00000330883.8:c.2337G>A	ENSP00000328531.4:p.Glu779=
ENST00000330883.9:c.2337G>A	ENSP00000328531.4:p.Glu779=
ENST00000684241.1:n.4190G>A
XM_011516185.1:c.3057G>A	XP_011514487.1:p.Glu1019=
XM_011516185.2:c.3057G>A	XP_011514487.1:p.Glu1019=
XM_017012195.1:c.3207G>A	XP_016867684.1:p.Glu1069=
XM_017012196.1:c.3180G>A	XP_016867685.1:p.Glu1060=