Canonical Allele Identifier: CA369852907

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947458G>A , CM000669.2:g.150947458G>A	GRCh38
NC_000007.13:g.150644546G>A , CM000669.1:g.150644546G>A	GRCh37
NC_000007.12:g.150275479G>A	NCBI36
NG_008916.1:g.35469C>T , LRG_288:g.35469C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.3022C>T MANE Select	NP_000229.1:p.Gln1008Ter
ENST00000262186.10:c.3022C>T MANE Select	ENSP00000262186.5:p.Gln1008Ter
NM_000238.3:c.3022C>T , LRG_288t1:c.3022C>T	NP_000229.1:p.Gln1008Ter
NM_172057.2:c.2002C>T , LRG_288t3:c.2002C>T	NP_742054.1:p.Gln668Ter
NM_172057.3:c.2002C>T	NP_742054.1:p.Gln668Ter
ENST00000262186.9:c.3022C>T	ENSP00000262186.5:p.Gln1008Ter
ENST00000330883.8:c.2002C>T	ENSP00000328531.4:p.Gln668Ter
ENST00000330883.9:c.2002C>T	ENSP00000328531.4:p.Gln668Ter
ENST00000684241.1:n.3855C>T
XM_011516185.1:c.2722C>T	XP_011514487.1:p.Gln908Ter
XM_011516185.2:c.2722C>T	XP_011514487.1:p.Gln908Ter
XM_011516186.1:c.*102C>T	XP_011514488.1:n.*102C>T
XM_011516186.3:c.*102C>T	XP_011514488.1:n.*102C>T
XM_017012195.1:c.2872C>T	XP_016867684.1:p.Gln958Ter
XM_017012196.1:c.2845C>T	XP_016867685.1:p.Gln949Ter