Canonical Allele Identifier: CA1229582049
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512041C= , CM000663.2:g.241512041C= GRCh38
NC_000001.10:g.241675341C= , CM000663.1:g.241675341C= GRCh37
NC_000001.9:g.239741964C= NCBI36
NG_012338.1:g.12714G= , LRG_504:g.12714G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.984G=
ENST00000682162.1:c.510G= ENSP00000508203.1:n.510G=
ENST00000682567.1:n.558G=
ENST00000683521.1:c.481G= ENSP00000506864.1:p.Ala161=
ENST00000684483.1:c.481G= ENSP00000507894.1:p.Ala161=
ENST00000366560.4:c.481G= MANE Select ENSP00000355518.4:p.Ala161=
ENST00000366560.3:c.481G= ENSP00000355518.3:p.Ala161=
ENST00000497042.1:n.177G=
NM_000143.3:c.481G= , LRG_504t1:c.481G= NP_000134.2:p.Ala161=
XM_011544132.1:c.253G= XP_011542434.1:p.Ala85=
XM_011544132.2:c.253G= XP_011542434.1:p.Ala85=
NM_000143.4:c.481G= MANE Select NP_000134.2:p.Ala161=