Canonical Allele Identifier: CA2574453953
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508871A>C , CM000663.2:g.241508871A>C GRCh38
NC_000001.10:g.241672171A>C , CM000663.1:g.241672171A>C GRCh37
NC_000001.9:g.239738794A>C NCBI36
NG_012338.1:g.15884T>G , LRG_504:g.15884T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1059-86T>G
ENST00000682162.1:c.585-86T>G ENSP00000508203.1:n.585-86T>G
ENST00000682567.1:n.633-86T>G
ENST00000683521.1:c.556-86T>G ENSP00000506864.1:n.556-86T>G
ENST00000684161.1:n.1685T>G
ENST00000684483.1:c.556-111T>G ENSP00000507894.1:n.556-111T>G
ENST00000366560.4:c.556-86T>G MANE Select ENSP00000355518.4:n.556-86T>G
ENST00000366560.3:c.556-86T>G ENSP00000355518.3:n.556-86T>G
NM_000143.3:c.556-86T>G , LRG_504t1:c.556-86T>G NP_000134.2:n.556-86T>G
XM_011544132.1:c.328-86T>G XP_011542434.1:n.328-86T>G
XM_011544132.2:c.328-86T>G XP_011542434.1:n.328-86T>G
NM_000143.4:c.556-86T>G MANE Select NP_000134.2:n.556-86T>G