Canonical Allele Identifier: CA1229582051
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512049C= , CM000663.2:g.241512049C= GRCh38
NC_000001.10:g.241675349C= , CM000663.1:g.241675349C= GRCh37
NC_000001.9:g.239741972C= NCBI36
NG_012338.1:g.12706G= , LRG_504:g.12706G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.976G=
ENST00000682162.1:c.502G= ENSP00000508203.1:n.502G=
ENST00000682567.1:n.550G=
ENST00000683521.1:c.473G= ENSP00000506864.1:p.Ser158=
ENST00000684483.1:c.473G= ENSP00000507894.1:p.Ser158=
ENST00000366560.4:c.473G= MANE Select ENSP00000355518.4:p.Ser158=
ENST00000366560.3:c.473G= ENSP00000355518.3:p.Ser158=
ENST00000497042.1:n.169G=
NM_000143.3:c.473G= , LRG_504t1:c.473G= NP_000134.2:p.Ser158=
XM_011544132.1:c.245G= XP_011542434.1:p.Ser82=
XM_011544132.2:c.245G= XP_011542434.1:p.Ser82=
NM_000143.4:c.473G= MANE Select NP_000134.2:p.Ser158=