Canonical Allele Identifier: CA1752429791
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947626T= , CM000669.2:g.150947626T= GRCh38
NC_000007.13:g.150644714T= , CM000669.1:g.150644714T= GRCh37
NC_000007.12:g.150275647T= NCBI36
NG_008916.1:g.35301A= , LRG_288:g.35301A=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3778A=
ENST00000262186.10:c.2945A= MANE Select ENSP00000262186.5:p.Asp982=
ENST00000330883.9:c.1925A= ENSP00000328531.4:p.Asp642=
ENST00000262186.9:c.2945A= ENSP00000262186.5:p.Asp982=
ENST00000330883.8:c.1925A= ENSP00000328531.4:p.Asp642=
NM_000238.3:c.2945A= , LRG_288t1:c.2945A= NP_000229.1:p.Asp982=
NM_172057.2:c.1925A= , LRG_288t3:c.1925A= NP_742054.1:p.Asp642=
XM_011516185.1:c.2645A= XP_011514487.1:p.Asp882=
XM_011516186.1:c.*25A= XP_011514488.1:n.*25A=
XM_011516185.2:c.2645A= XP_011514487.1:p.Asp882=
XM_011516186.3:c.*25A= XP_011514488.1:n.*25A=
XM_017012195.1:c.2795A= XP_016867684.1:p.Asp932=
XM_017012196.1:c.2768A= XP_016867685.1:p.Asp923=
NM_000238.4:c.2945A= MANE Select NP_000229.1:p.Asp982=
NM_172057.3:c.1925A= NP_742054.1:p.Asp642=