Canonical Allele Identifier: CA1144233438
Community Standard Title: NM_000143.4(FH):c.560C= (p.Ser187=)
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508781G= , CM000663.2:g.241508781G= GRCh38
NC_000001.10:g.241672081G= , CM000663.1:g.241672081G= GRCh37
NC_000001.9:g.239738704G= NCBI36
NG_012338.1:g.15974C= , LRG_504:g.15974C=

Transcript Alleles

HGVS Amino-acid Change
NM_000143.4:c.560C= MANE Select NP_000134.2:p.Ser187=
ENST00000366560.4:c.560C= MANE Select ENSP00000355518.4:p.Ser187=
NM_000143.3:c.560C= , LRG_504t1:c.560C= NP_000134.2:p.Ser187=
ENST00000366560.3:c.560C= ENSP00000355518.3:p.Ser187=
ENST00000493477.2:n.1063C=
ENST00000682162.1:c.589C= ENSP00000508203.1:n.589C=
ENST00000682567.1:n.637C=
ENST00000683521.1:c.560C= ENSP00000506864.1:p.Ser187=
ENST00000684161.1:n.1775C=
ENST00000684483.1:c.556-21C= ENSP00000507894.1:n.556-21C=
XM_011544132.1:c.332C= XP_011542434.1:p.Ser111=
XM_011544132.2:c.332C= XP_011542434.1:p.Ser111=