Canonical Allele Identifier: CA038119

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946956G>A , CM000669.2:g.150946956G>A	GRCh38
NC_000007.13:g.150644044G>A , CM000669.1:g.150644044G>A	GRCh37
NC_000007.12:g.150274977G>A	NCBI36
NG_008916.1:g.35971C>T , LRG_288:g.35971C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.3251C>T MANE Select	NP_000229.1:p.Pro1084Leu
ENST00000262186.10:c.3251C>T MANE Select	ENSP00000262186.5:p.Pro1084Leu
NM_000238.3:c.3251C>T , LRG_288t1:c.3251C>T	NP_000229.1:p.Pro1084Leu
NM_172057.2:c.2231C>T , LRG_288t3:c.2231C>T	NP_742054.1:p.Pro744Leu
NM_172057.3:c.2231C>T	NP_742054.1:p.Pro744Leu
ENST00000262186.9:c.3251C>T	ENSP00000262186.5:p.Pro1084Leu
ENST00000330883.8:c.2231C>T	ENSP00000328531.4:p.Pro744Leu
ENST00000330883.9:c.2231C>T	ENSP00000328531.4:p.Pro744Leu
ENST00000684241.1:n.4084C>T
XM_011516185.1:c.2951C>T	XP_011514487.1:p.Pro984Leu
XM_011516185.2:c.2951C>T	XP_011514487.1:p.Pro984Leu
XM_017012195.1:c.3101C>T	XP_016867684.1:p.Pro1034Leu
XM_017012196.1:c.3074C>T	XP_016867685.1:p.Pro1025Leu