Canonical Allele Identifier: CA1229578109
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502420T= , CM000663.2:g.241502420T= GRCh38
NC_000001.10:g.241665720T= , CM000663.1:g.241665720T= GRCh37
NC_000001.9:g.239732343T= NCBI36
NG_012338.1:g.22335A= , LRG_504:g.22335A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1739+23A=
ENST00000682162.1:c.1265+23A= ENSP00000508203.1:n.1265+23A=
ENST00000682567.1:n.2807A=
ENST00000683521.1:c.1236+23A= ENSP00000506864.1:n.1236+23A=
ENST00000684161.1:n.2451+23A=
ENST00000684483.1:c.*632+23A= ENSP00000507894.1:n.*632+23A=
ENST00000366560.4:c.1236+23A= MANE Select ENSP00000355518.4:n.1236+23A=
ENST00000366560.3:c.1236+23A= ENSP00000355518.3:n.1236+23A=
NM_000143.3:c.1236+23A= , LRG_504t1:c.1236+23A= NP_000134.2:n.1236+23A=
XM_011544132.1:c.1008+23A= XP_011542434.1:n.1008+23A=
XM_011544132.2:c.1008+23A= XP_011542434.1:n.1008+23A=
NM_000143.4:c.1236+23A= MANE Select NP_000134.2:n.1236+23A=