Canonical Allele Identifier: CA1752431953
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948944C= , CM000669.2:g.150948944C= GRCh38
NC_000007.13:g.150646032C= , CM000669.1:g.150646032C= GRCh37
NC_000007.12:g.150276965C= NCBI36
NG_008916.1:g.33983G= , LRG_288:g.33983G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3337G=
ENST00000262186.10:c.2504G= MANE Select ENSP00000262186.5:p.Arg835=
ENST00000330883.9:c.1484G= ENSP00000328531.4:p.Arg495=
ENST00000262186.9:c.2504G= ENSP00000262186.5:p.Arg835=
ENST00000330883.8:c.1484G= ENSP00000328531.4:p.Arg495=
NM_000238.3:c.2504G= , LRG_288t1:c.2504G= NP_000229.1:p.Arg835=
NM_172057.2:c.1484G= , LRG_288t3:c.1484G= NP_742054.1:p.Arg495=
XM_011516185.1:c.2204G= XP_011514487.1:p.Arg735=
XM_011516186.1:c.2504G= XP_011514488.1:p.Arg835=
XM_011516185.2:c.2204G= XP_011514487.1:p.Arg735=
XM_011516186.3:c.2504G= XP_011514488.1:p.Arg835=
XM_017012195.1:c.2354G= XP_016867684.1:p.Arg785=
XM_017012196.1:c.2327G= XP_016867685.1:p.Arg776=
NM_000238.4:c.2504G= MANE Select NP_000229.1:p.Arg835=
NM_172057.3:c.1484G= NP_742054.1:p.Arg495=