Canonical Allele Identifier: CA369855170

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948980C>A , CM000669.2:g.150948980C>A	GRCh38
NC_000007.13:g.150646068C>A , CM000669.1:g.150646068C>A	GRCh37
NC_000007.12:g.150277001C>A	NCBI36
NG_008916.1:g.33947G>T , LRG_288:g.33947G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2468G>T MANE Select	NP_000229.1:p.Arg823Leu
ENST00000262186.10:c.2468G>T MANE Select	ENSP00000262186.5:p.Arg823Leu
NM_000238.3:c.2468G>T , LRG_288t1:c.2468G>T	NP_000229.1:p.Arg823Leu
NM_172057.2:c.1448G>T , LRG_288t3:c.1448G>T	NP_742054.1:p.Arg483Leu
NM_172057.3:c.1448G>T	NP_742054.1:p.Arg483Leu
ENST00000262186.9:c.2468G>T	ENSP00000262186.5:p.Arg823Leu
ENST00000330883.8:c.1448G>T	ENSP00000328531.4:p.Arg483Leu
ENST00000330883.9:c.1448G>T	ENSP00000328531.4:p.Arg483Leu
ENST00000684241.1:n.3301G>T
XM_011516185.1:c.2168G>T	XP_011514487.1:p.Arg723Leu
XM_011516185.2:c.2168G>T	XP_011514487.1:p.Arg723Leu
XM_011516186.1:c.2468G>T	XP_011514488.1:p.Arg823Leu
XM_011516186.3:c.2468G>T	XP_011514488.1:p.Arg823Leu
XM_017012195.1:c.2318G>T	XP_016867684.1:p.Arg773Leu
XM_017012196.1:c.2291G>T	XP_016867685.1:p.Arg764Leu