Canonical Allele Identifier: CA1752418635
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958410C= , CM000669.2:g.150958410C= GRCh38
NC_000007.13:g.150655498C= , CM000669.1:g.150655498C= GRCh37
NC_000007.12:g.150286431C= NCBI36
NG_008916.1:g.24517G= , LRG_288:g.24517G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1398G=
ENST00000262186.10:c.565G= MANE Select ENSP00000262186.5:p.Gly189=
ENST00000262186.9:c.565G= ENSP00000262186.5:p.Gly189=
ENST00000430723.4:c.235-18G= ENSP00000387657.4:n.235-18G=
ENST00000532957.5:n.788G=
NM_000238.3:c.565G= , LRG_288t1:c.565G= NP_000229.1:p.Gly189=
NM_172056.2:c.565G= , LRG_288t2:c.565G= NP_742053.1:p.Gly189=
XM_011516185.1:c.265G= XP_011514487.1:p.Gly89=
XM_011516186.1:c.565G= XP_011514488.1:p.Gly189=
XM_011516185.2:c.265G= XP_011514487.1:p.Gly89=
XM_011516186.3:c.565G= XP_011514488.1:p.Gly189=
XM_017012195.1:c.415G= XP_016867684.1:p.Gly139=
XM_017012196.1:c.388G= XP_016867685.1:p.Gly130=
NM_000238.4:c.565G= MANE Select NP_000229.1:p.Gly189=