Canonical Allele Identifier: CA345438309
Gene: FH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504179A>T , CM000663.2:g.241504179A>T GRCh38
NC_000001.10:g.241667479A>T , CM000663.1:g.241667479A>T GRCh37
NC_000001.9:g.239734102A>T NCBI36
NG_012338.1:g.20576T>A , LRG_504:g.20576T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1474T>A
ENST00000682162.1:c.1000T>A ENSP00000508203.1:n.1000T>A
ENST00000682567.1:n.1048T>A
ENST00000683521.1:c.971T>A ENSP00000506864.1:p.Leu324His
ENST00000684161.1:n.2186T>A
ENST00000684483.1:c.*367T>A ENSP00000507894.1:n.*367T>A
ENST00000366560.4:c.971T>A MANE Select ENSP00000355518.4:p.Leu324His
ENST00000366560.3:c.971T>A ENSP00000355518.3:p.Leu324His
NM_000143.3:c.971T>A , LRG_504t1:c.971T>A NP_000134.2:p.Leu324His
XM_011544132.1:c.743T>A XP_011542434.1:p.Leu248His
XM_011544132.2:c.743T>A XP_011542434.1:p.Leu248His
NM_000143.4:c.971T>A MANE Select NP_000134.2:p.Leu324His