Canonical Allele Identifier: CA1229578102
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502402C= , CM000663.2:g.241502402C= GRCh38
NC_000001.10:g.241665702C= , CM000663.1:g.241665702C= GRCh37
NC_000001.9:g.239732325C= NCBI36
NG_012338.1:g.22353G= , LRG_504:g.22353G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1739+41G=
ENST00000682162.1:c.1265+41G= ENSP00000508203.1:n.1265+41G=
ENST00000682567.1:n.2825G=
ENST00000683521.1:c.1236+41G= ENSP00000506864.1:n.1236+41G=
ENST00000684161.1:n.2451+41G=
ENST00000684483.1:c.*632+41G= ENSP00000507894.1:n.*632+41G=
ENST00000366560.4:c.1236+41G= MANE Select ENSP00000355518.4:n.1236+41G=
ENST00000366560.3:c.1236+41G= ENSP00000355518.3:n.1236+41G=
NM_000143.3:c.1236+41G= , LRG_504t1:c.1236+41G= NP_000134.2:n.1236+41G=
XM_011544132.1:c.1008+41G= XP_011542434.1:n.1008+41G=
XM_011544132.2:c.1008+41G= XP_011542434.1:n.1008+41G=
NM_000143.4:c.1236+41G= MANE Select NP_000134.2:n.1236+41G=