Canonical Allele Identifier: CA1752416581
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957285G= , CM000669.2:g.150957285G= GRCh38
NC_000007.13:g.150654373G= , CM000669.1:g.150654373G= GRCh37
NC_000007.12:g.150285306G= NCBI36
NG_008916.1:g.25642C= , LRG_288:g.25642C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1961+6C=
ENST00000262186.10:c.1128+6C= MANE Select ENSP00000262186.5:n.1128+6C=
ENST00000262186.9:c.1128+6C= ENSP00000262186.5:n.1128+6C=
ENST00000430723.4:c.780+6C= ENSP00000387657.4:n.780+6C=
ENST00000532957.5:n.1351+6C=
NM_000238.3:c.1128+6C= , LRG_288t1:c.1128+6C= NP_000229.1:n.1128+6C=
NM_172056.2:c.1128+6C= , LRG_288t2:c.1128+6C= NP_742053.1:n.1128+6C=
XM_011516185.1:c.828+6C= XP_011514487.1:n.828+6C=
XM_011516186.1:c.1128+6C= XP_011514488.1:n.1128+6C=
XM_011516185.2:c.828+6C= XP_011514487.1:n.828+6C=
XM_011516186.3:c.1128+6C= XP_011514488.1:n.1128+6C=
XM_017012195.1:c.978+6C= XP_016867684.1:n.978+6C=
XM_017012196.1:c.951+6C= XP_016867685.1:n.951+6C=
NM_000238.4:c.1128+6C= MANE Select NP_000229.1:n.1128+6C=