Canonical Allele Identifier: CA1752416852
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957441G= , CM000669.2:g.150957441G= GRCh38
NC_000007.13:g.150654529G= , CM000669.1:g.150654529G= GRCh37
NC_000007.12:g.150285462G= NCBI36
NG_008916.1:g.25486C= , LRG_288:g.25486C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1811C=
ENST00000262186.10:c.978C= MANE Select ENSP00000262186.5:p.Arg326=
ENST00000262186.9:c.978C= ENSP00000262186.5:p.Arg326=
ENST00000430723.4:c.630C= ENSP00000387657.4:p.Arg210=
ENST00000532957.5:n.1201C=
NM_000238.3:c.978C= , LRG_288t1:c.978C= NP_000229.1:p.Arg326=
NM_172056.2:c.978C= , LRG_288t2:c.978C= NP_742053.1:p.Arg326=
XM_011516185.1:c.678C= XP_011514487.1:p.Arg226=
XM_011516186.1:c.978C= XP_011514488.1:p.Arg326=
XM_011516185.2:c.678C= XP_011514487.1:p.Arg226=
XM_011516186.3:c.978C= XP_011514488.1:p.Arg326=
XM_017012195.1:c.828C= XP_016867684.1:p.Arg276=
XM_017012196.1:c.801C= XP_016867685.1:p.Arg267=
NM_000238.4:c.978C= MANE Select NP_000229.1:p.Arg326=