Canonical Allele Identifier: CA458644741

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947009C>A , CM000669.2:g.150947009C>A	GRCh38
NC_000007.13:g.150644097C>A , CM000669.1:g.150644097C>A	GRCh37
NC_000007.12:g.150275030C>A	NCBI36
NG_008916.1:g.35918G>T , LRG_288:g.35918G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.3198G>T MANE Select	NP_000229.1:p.Leu1066=
ENST00000262186.10:c.3198G>T MANE Select	ENSP00000262186.5:p.Leu1066=
NM_000238.3:c.3198G>T , LRG_288t1:c.3198G>T	NP_000229.1:p.Leu1066=
NM_172057.2:c.2178G>T , LRG_288t3:c.2178G>T	NP_742054.1:p.Leu726=
NM_172057.3:c.2178G>T	NP_742054.1:p.Leu726=
ENST00000262186.9:c.3198G>T	ENSP00000262186.5:p.Leu1066=
ENST00000330883.8:c.2178G>T	ENSP00000328531.4:p.Leu726=
ENST00000330883.9:c.2178G>T	ENSP00000328531.4:p.Leu726=
ENST00000684241.1:n.4031G>T
XM_011516185.1:c.2898G>T	XP_011514487.1:p.Leu966=
XM_011516185.2:c.2898G>T	XP_011514487.1:p.Leu966=
XM_017012195.1:c.3048G>T	XP_016867684.1:p.Leu1016=
XM_017012196.1:c.3021G>T	XP_016867685.1:p.Leu1007=