Canonical Allele Identifier: CA169072031

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947429G>A , CM000669.2:g.150947429G>A	GRCh38
NC_000007.13:g.150644517G>A , CM000669.1:g.150644517G>A	GRCh37
NC_000007.12:g.150275450G>A	NCBI36
NG_008916.1:g.35498C>T , LRG_288:g.35498C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.3051C>T MANE Select	NP_000229.1:p.Ala1017=
ENST00000262186.10:c.3051C>T MANE Select	ENSP00000262186.5:p.Ala1017=
NM_000238.3:c.3051C>T , LRG_288t1:c.3051C>T	NP_000229.1:p.Ala1017=
NM_172057.2:c.2031C>T , LRG_288t3:c.2031C>T	NP_742054.1:p.Ala677=
NM_172057.3:c.2031C>T	NP_742054.1:p.Ala677=
ENST00000262186.9:c.3051C>T	ENSP00000262186.5:p.Ala1017=
ENST00000330883.8:c.2031C>T	ENSP00000328531.4:p.Ala677=
ENST00000330883.9:c.2031C>T	ENSP00000328531.4:p.Ala677=
ENST00000684241.1:n.3884C>T
XM_011516185.1:c.2751C>T	XP_011514487.1:p.Ala917=
XM_011516185.2:c.2751C>T	XP_011514487.1:p.Ala917=
XM_011516186.1:c.*131C>T	XP_011514488.1:n.*131C>T
XM_011516186.3:c.*131C>T	XP_011514488.1:n.*131C>T
XM_017012195.1:c.2901C>T	XP_016867684.1:p.Ala967=
XM_017012196.1:c.2874C>T	XP_016867685.1:p.Ala958=