Canonical Allele Identifier: CA2290577562
Community Standard Title: NM_021624.4(HRH4):c.413C= (p.Ala138=)
Gene: HRH4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.24476802C= , CM000680.2:g.24476802C= GRCh38
NC_000018.9:g.22056766C= , CM000680.1:g.22056766C= GRCh37
NC_000018.8:g.20310764C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_021624.4:c.413C= MANE Select NP_067637.2:p.Ala138=
ENST00000256906.5:c.413C= MANE Select ENSP00000256906.4:p.Ala138=
NM_001143828.1:c.194-45C= NP_001137300.1:n.194-45C=
NM_001143828.2:c.194-45C= NP_001137300.1:n.194-45C=
NM_001160166.1:c.*45C= NP_001153638.1:n.*45C=
NM_001160166.2:c.*45C= NP_001153638.1:n.*45C=
NM_021624.3:c.413C= NP_067637.2:p.Ala138=
ENST00000256906.4:c.413C= ENSP00000256906.4:p.Ala138=
ENST00000426880.2:c.194-45C= ENSP00000402526.2:n.194-45C=
XM_011526133.1:c.357+7851C= XP_011524435.1:n.357+7851C=