Canonical Allele Identifier: CA2748368254
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504270A>C , CM000663.2:g.241504270A>C GRCh38
NC_000001.10:g.241667570A>C , CM000663.1:g.241667570A>C GRCh37
NC_000001.9:g.239734193A>C NCBI36
NG_012338.1:g.20485T>G , LRG_504:g.20485T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1408-25T>G
ENST00000682162.1:c.934-25T>G ENSP00000508203.1:n.934-25T>G
ENST00000682567.1:n.982-25T>G
ENST00000683521.1:c.905-25T>G ENSP00000506864.1:n.905-25T>G
ENST00000684161.1:n.2120-25T>G
ENST00000684483.1:c.*301-25T>G ENSP00000507894.1:n.*301-25T>G
ENST00000366560.4:c.905-25T>G MANE Select ENSP00000355518.4:n.905-25T>G
ENST00000366560.3:c.905-25T>G ENSP00000355518.3:n.905-25T>G
NM_000143.3:c.905-25T>G , LRG_504t1:c.905-25T>G NP_000134.2:n.905-25T>G
XM_011544132.1:c.677-25T>G XP_011542434.1:n.677-25T>G
XM_011544132.2:c.677-25T>G XP_011542434.1:n.677-25T>G
NM_000143.4:c.905-25T>G MANE Select NP_000134.2:n.905-25T>G