Canonical Allele Identifier: CA1752427585
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150946960T= , CM000669.2:g.150946960T= GRCh38
NC_000007.13:g.150644048T= , CM000669.1:g.150644048T= GRCh37
NC_000007.12:g.150274981T= NCBI36
NG_008916.1:g.35967A= , LRG_288:g.35967A=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.4080A=
ENST00000262186.10:c.3247A= MANE Select ENSP00000262186.5:p.Thr1083=
ENST00000330883.9:c.2227A= ENSP00000328531.4:p.Thr743=
ENST00000262186.9:c.3247A= ENSP00000262186.5:p.Thr1083=
ENST00000330883.8:c.2227A= ENSP00000328531.4:p.Thr743=
NM_000238.3:c.3247A= , LRG_288t1:c.3247A= NP_000229.1:p.Thr1083=
NM_172057.2:c.2227A= , LRG_288t3:c.2227A= NP_742054.1:p.Thr743=
XM_011516185.1:c.2947A= XP_011514487.1:p.Thr983=
XM_011516185.2:c.2947A= XP_011514487.1:p.Thr983=
XM_017012195.1:c.3097A= XP_016867684.1:p.Thr1033=
XM_017012196.1:c.3070A= XP_016867685.1:p.Thr1024=
NM_000238.4:c.3247A= MANE Select NP_000229.1:p.Thr1083=
NM_172057.3:c.2227A= NP_742054.1:p.Thr743=