Canonical Allele Identifier: CA1752430546
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947876T= , CM000669.2:g.150947876T= GRCh38
NC_000007.13:g.150644964T= , CM000669.1:g.150644964T= GRCh37
NC_000007.12:g.150275897T= NCBI36
NG_008916.1:g.35051A= , LRG_288:g.35051A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3528A=
ENST00000262186.10:c.2695A= MANE Select ENSP00000262186.5:p.Thr899=
ENST00000330883.9:c.1675A= ENSP00000328531.4:p.Thr559=
ENST00000262186.9:c.2695A= ENSP00000262186.5:p.Thr899=
ENST00000330883.8:c.1675A= ENSP00000328531.4:p.Thr559=
NM_000238.3:c.2695A= , LRG_288t1:c.2695A= NP_000229.1:p.Thr899=
NM_172057.2:c.1675A= , LRG_288t3:c.1675A= NP_742054.1:p.Thr559=
XM_011516185.1:c.2395A= XP_011514487.1:p.Thr799=
XM_011516186.1:c.2693-185A= XP_011514488.1:n.2693-185A=
XM_011516185.2:c.2395A= XP_011514487.1:p.Thr799=
XM_011516186.3:c.2693-185A= XP_011514488.1:n.2693-185A=
XM_017012195.1:c.2545A= XP_016867684.1:p.Thr849=
XM_017012196.1:c.2518A= XP_016867685.1:p.Thr840=
NM_000238.4:c.2695A= MANE Select NP_000229.1:p.Thr899=
NM_172057.3:c.1675A= NP_742054.1:p.Thr559=