Canonical Allele Identifier: CA1229578188
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502608T= , CM000663.2:g.241502608T= GRCh38
NC_000001.10:g.241665908T= , CM000663.1:g.241665908T= GRCh37
NC_000001.9:g.239732531T= NCBI36
NG_012338.1:g.22147A= , LRG_504:g.22147A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1612-38A=
ENST00000682162.1:c.1138-38A= ENSP00000508203.1:n.1138-38A=
ENST00000682567.1:n.2619A=
ENST00000683521.1:c.1109-38A= ENSP00000506864.1:n.1109-38A=
ENST00000684161.1:n.2324-38A=
ENST00000684483.1:c.*505-38A= ENSP00000507894.1:n.*505-38A=
ENST00000366560.4:c.1109-38A= MANE Select ENSP00000355518.4:n.1109-38A=
ENST00000366560.3:c.1109-38A= ENSP00000355518.3:n.1109-38A=
NM_000143.3:c.1109-38A= , LRG_504t1:c.1109-38A= NP_000134.2:n.1109-38A=
XM_011544132.1:c.881-38A= XP_011542434.1:n.881-38A=
XM_011544132.2:c.881-38A= XP_011542434.1:n.881-38A=
NM_000143.4:c.1109-38A= MANE Select NP_000134.2:n.1109-38A=