Canonical Allele Identifier: CA1752416857
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957443G= , CM000669.2:g.150957443G= GRCh38
NC_000007.13:g.150654531G= , CM000669.1:g.150654531G= GRCh37
NC_000007.12:g.150285464G= NCBI36
NG_008916.1:g.25484C= , LRG_288:g.25484C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1809C=
ENST00000262186.10:c.976C= MANE Select ENSP00000262186.5:p.Arg326=
ENST00000262186.9:c.976C= ENSP00000262186.5:p.Arg326=
ENST00000430723.4:c.628C= ENSP00000387657.4:p.Arg210=
ENST00000532957.5:n.1199C=
NM_000238.3:c.976C= , LRG_288t1:c.976C= NP_000229.1:p.Arg326=
NM_172056.2:c.976C= , LRG_288t2:c.976C= NP_742053.1:p.Arg326=
XM_011516185.1:c.676C= XP_011514487.1:p.Arg226=
XM_011516186.1:c.976C= XP_011514488.1:p.Arg326=
XM_011516185.2:c.676C= XP_011514487.1:p.Arg226=
XM_011516186.3:c.976C= XP_011514488.1:p.Arg326=
XM_017012195.1:c.826C= XP_016867684.1:p.Arg276=
XM_017012196.1:c.799C= XP_016867685.1:p.Arg267=
NM_000238.4:c.976C= MANE Select NP_000229.1:p.Arg326=