Canonical Allele Identifier: CA1752431897
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948910A= , CM000669.2:g.150948910A= GRCh38
NC_000007.13:g.150645998A= , CM000669.1:g.150645998A= GRCh37
NC_000007.12:g.150276931A= NCBI36
NG_008916.1:g.34017T= , LRG_288:g.34017T=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3371T=
ENST00000262186.10:c.2538T= MANE Select ENSP00000262186.5:p.Pro846=
ENST00000330883.9:c.1518T= ENSP00000328531.4:p.Pro506=
ENST00000262186.9:c.2538T= ENSP00000262186.5:p.Pro846=
ENST00000330883.8:c.1518T= ENSP00000328531.4:p.Pro506=
NM_000238.3:c.2538T= , LRG_288t1:c.2538T= NP_000229.1:p.Pro846=
NM_172057.2:c.1518T= , LRG_288t3:c.1518T= NP_742054.1:p.Pro506=
XM_011516185.1:c.2238T= XP_011514487.1:p.Pro746=
XM_011516186.1:c.2538T= XP_011514488.1:p.Pro846=
XM_011516185.2:c.2238T= XP_011514487.1:p.Pro746=
XM_011516186.3:c.2538T= XP_011514488.1:p.Pro846=
XM_017012195.1:c.2388T= XP_016867684.1:p.Pro796=
XM_017012196.1:c.2361T= XP_016867685.1:p.Pro787=
NM_000238.4:c.2538T= MANE Select NP_000229.1:p.Pro846=
NM_172057.3:c.1518T= NP_742054.1:p.Pro506=