Canonical Allele Identifier: CA1229582068
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512088G= , CM000663.2:g.241512088G= GRCh38
NC_000001.10:g.241675388G= , CM000663.1:g.241675388G= GRCh37
NC_000001.9:g.239742011G= NCBI36
NG_012338.1:g.12667C= , LRG_504:g.12667C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.937C=
ENST00000682162.1:c.463C= ENSP00000508203.1:n.463C=
ENST00000682567.1:n.511C=
ENST00000683521.1:c.434C= ENSP00000506864.1:p.Ser145=
ENST00000684483.1:c.434C= ENSP00000507894.1:p.Ser145=
ENST00000366560.4:c.434C= MANE Select ENSP00000355518.4:p.Ser145=
ENST00000366560.3:c.434C= ENSP00000355518.3:p.Ser145=
ENST00000497042.1:n.130C=
NM_000143.3:c.434C= , LRG_504t1:c.434C= NP_000134.2:p.Ser145=
XM_011544132.1:c.206C= XP_011542434.1:p.Ser69=
XM_011544132.2:c.206C= XP_011542434.1:p.Ser69=
NM_000143.4:c.434C= MANE Select NP_000134.2:p.Ser145=