Canonical Allele Identifier: CA1752417956
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958150G= , CM000669.2:g.150958150G= GRCh38
NC_000007.13:g.150655238G= , CM000669.1:g.150655238G= GRCh37
NC_000007.12:g.150286171G= NCBI36
NG_008916.1:g.24777C= , LRG_288:g.24777C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1658C=
ENST00000262186.10:c.825C= MANE Select ENSP00000262186.5:p.Ser275=
ENST00000262186.9:c.825C= ENSP00000262186.5:p.Ser275=
ENST00000430723.4:c.477C= ENSP00000387657.4:p.Ser159=
ENST00000532957.5:n.1048C=
NM_000238.3:c.825C= , LRG_288t1:c.825C= NP_000229.1:p.Ser275=
NM_172056.2:c.825C= , LRG_288t2:c.825C= NP_742053.1:p.Ser275=
XM_011516185.1:c.525C= XP_011514487.1:p.Ser175=
XM_011516186.1:c.825C= XP_011514488.1:p.Ser275=
XM_011516185.2:c.525C= XP_011514487.1:p.Ser175=
XM_011516186.3:c.825C= XP_011514488.1:p.Ser275=
XM_017012195.1:c.675C= XP_016867684.1:p.Ser225=
XM_017012196.1:c.648C= XP_016867685.1:p.Ser216=
NM_000238.4:c.825C= MANE Select NP_000229.1:p.Ser275=