Canonical Allele Identifier: CA1229578205
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502663T= , CM000663.2:g.241502663T= GRCh38
NC_000001.10:g.241665963T= , CM000663.1:g.241665963T= GRCh37
NC_000001.9:g.239732586T= NCBI36
NG_012338.1:g.22092A= , LRG_504:g.22092A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1612-93A=
ENST00000682162.1:c.1138-93A= ENSP00000508203.1:n.1138-93A=
ENST00000682567.1:n.2564A=
ENST00000683521.1:c.1109-93A= ENSP00000506864.1:n.1109-93A=
ENST00000684161.1:n.2324-93A=
ENST00000684483.1:c.*505-93A= ENSP00000507894.1:n.*505-93A=
ENST00000366560.4:c.1109-93A= MANE Select ENSP00000355518.4:n.1109-93A=
ENST00000366560.3:c.1109-93A= ENSP00000355518.3:n.1109-93A=
NM_000143.3:c.1109-93A= , LRG_504t1:c.1109-93A= NP_000134.2:n.1109-93A=
XM_011544132.1:c.881-93A= XP_011542434.1:n.881-93A=
XM_011544132.2:c.881-93A= XP_011542434.1:n.881-93A=
NM_000143.4:c.1109-93A= MANE Select NP_000134.2:n.1109-93A=