Canonical Allele Identifier: CA1752417686
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958060G= , CM000669.2:g.150958060G= GRCh38
NC_000007.13:g.150655148G= , CM000669.1:g.150655148G= GRCh37
NC_000007.12:g.150286081G= NCBI36
NG_008916.1:g.24867C= , LRG_288:g.24867C=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1748C=
ENST00000262186.10:c.915C= MANE Select ENSP00000262186.5:p.Thr305=
ENST00000262186.9:c.915C= ENSP00000262186.5:p.Thr305=
ENST00000430723.4:c.567C= ENSP00000387657.4:p.Thr189=
ENST00000532957.5:n.1138C=
NM_000238.3:c.915C= , LRG_288t1:c.915C= NP_000229.1:p.Thr305=
NM_172056.2:c.915C= , LRG_288t2:c.915C= NP_742053.1:p.Thr305=
XM_011516185.1:c.615C= XP_011514487.1:p.Thr205=
XM_011516186.1:c.915C= XP_011514488.1:p.Thr305=
XM_011516185.2:c.615C= XP_011514487.1:p.Thr205=
XM_011516186.3:c.915C= XP_011514488.1:p.Thr305=
XM_017012195.1:c.765C= XP_016867684.1:p.Thr255=
XM_017012196.1:c.738C= XP_016867685.1:p.Thr246=
NM_000238.4:c.915C= MANE Select NP_000229.1:p.Thr305=