Canonical Allele Identifier: CA1752440916
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974829G= , CM000669.2:g.150974829G= GRCh38
NC_000007.13:g.150671917G= , CM000669.1:g.150671917G= GRCh37
NC_000007.12:g.150302850G= NCBI36
NG_008916.1:g.8098C= , LRG_288:g.8098C=

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.189C= MANE Select ENSP00000262186.5:p.Pro63=
ENST00000262186.9:c.189C= ENSP00000262186.5:p.Pro63=
ENST00000430723.4:c.12C= ENSP00000387657.4:p.Pro4=
ENST00000532957.5:n.412C=
NM_000238.3:c.189C= , LRG_288t1:c.189C= NP_000229.1:p.Pro63=
NM_172056.2:c.189C= , LRG_288t2:c.189C= NP_742053.1:p.Pro63=
XM_011516186.1:c.189C= XP_011514488.1:p.Pro63=
XM_011516186.3:c.189C= XP_011514488.1:p.Pro63=
XM_017012196.1:c.12C= XP_016867685.1:p.Pro4=
NM_000238.4:c.189C= MANE Select NP_000229.1:p.Pro63=