Canonical Allele Identifier: CA3146465432
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959642C= , CM000669.2:g.150959642C= GRCh38
NC_000007.13:g.150656730C= , CM000669.1:g.150656730C= GRCh37
NC_000007.12:g.150287663C= NCBI36
NG_008916.1:g.23285G= , LRG_288:g.23285G=

Transcript Alleles

HGVS Amino-acid Change
NM_000238.4:c.402G= MANE Select NP_000229.1:p.Glu134=
ENST00000262186.10:c.402G= MANE Select ENSP00000262186.5:p.Glu134=
NM_000238.3:c.402G= , LRG_288t1:c.402G= NP_000229.1:p.Glu134=
NM_172056.2:c.402G= , LRG_288t2:c.402G= NP_742053.1:p.Glu134=
ENST00000262186.9:c.402G= ENSP00000262186.5:p.Glu134=
ENST00000430723.4:c.225G= ENSP00000387657.4:p.Glu75=
ENST00000532957.5:n.625G=
ENST00000684241.1:n.1235G=
XM_011516185.1:c.102G= XP_011514487.1:p.Glu34=
XM_011516185.2:c.102G= XP_011514487.1:p.Glu34=
XM_011516186.1:c.402G= XP_011514488.1:p.Glu134=
XM_011516186.3:c.402G= XP_011514488.1:p.Glu134=
XM_017012195.1:c.252G= XP_016867684.1:p.Glu84=
XM_017012196.1:c.225G= XP_016867685.1:p.Glu75=