Canonical Allele Identifier: CA034864

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947779G>A , CM000669.2:g.150947779G>A	GRCh38
NC_000007.13:g.150644867G>A , CM000669.1:g.150644867G>A	GRCh37
NC_000007.12:g.150275800G>A	NCBI36
NG_008916.1:g.35148C>T , LRG_288:g.35148C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2792C>T MANE Select	NP_000229.1:p.Pro931Leu
ENST00000262186.10:c.2792C>T MANE Select	ENSP00000262186.5:p.Pro931Leu
NM_000238.3:c.2792C>T , LRG_288t1:c.2792C>T	NP_000229.1:p.Pro931Leu
NM_172057.2:c.1772C>T , LRG_288t3:c.1772C>T	NP_742054.1:p.Pro591Leu
NM_172057.3:c.1772C>T	NP_742054.1:p.Pro591Leu
ENST00000262186.9:c.2792C>T	ENSP00000262186.5:p.Pro931Leu
ENST00000330883.8:c.1772C>T	ENSP00000328531.4:p.Pro591Leu
ENST00000330883.9:c.1772C>T	ENSP00000328531.4:p.Pro591Leu
ENST00000684241.1:n.3625C>T
XM_011516185.1:c.2492C>T	XP_011514487.1:p.Pro831Leu
XM_011516185.2:c.2492C>T	XP_011514487.1:p.Pro831Leu
XM_011516186.1:c.2693-88C>T	XP_011514488.1:n.2693-88C>T
XM_011516186.3:c.2693-88C>T	XP_011514488.1:n.2693-88C>T
XM_017012195.1:c.2642C>T	XP_016867684.1:p.Pro881Leu
XM_017012196.1:c.2615C>T	XP_016867685.1:p.Pro872Leu