Canonical Allele Identifier: CA1229578779
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504061T= , CM000663.2:g.241504061T= GRCh38
NC_000001.10:g.241667361T= , CM000663.1:g.241667361T= GRCh37
NC_000001.9:g.239733984T= NCBI36
NG_012338.1:g.20694A= , LRG_504:g.20694A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1592A=
ENST00000682162.1:c.1118A= ENSP00000508203.1:n.1118A=
ENST00000682567.1:n.1166A=
ENST00000683521.1:c.1089A= ENSP00000506864.1:p.Pro363=
ENST00000684161.1:n.2304A=
ENST00000684483.1:c.*485A= ENSP00000507894.1:n.*485A=
ENST00000366560.4:c.1089A= MANE Select ENSP00000355518.4:p.Pro363=
ENST00000366560.3:c.1089A= ENSP00000355518.3:p.Pro363=
NM_000143.3:c.1089A= , LRG_504t1:c.1089A= NP_000134.2:p.Pro363=
XM_011544132.1:c.861A= XP_011542434.1:p.Pro287=
XM_011544132.2:c.861A= XP_011542434.1:p.Pro287=
NM_000143.4:c.1089A= MANE Select NP_000134.2:p.Pro363=