Canonical Allele Identifier: CA2574453958
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508884A>G , CM000663.2:g.241508884A>G GRCh38
NC_000001.10:g.241672184A>G , CM000663.1:g.241672184A>G GRCh37
NC_000001.9:g.239738807A>G NCBI36
NG_012338.1:g.15871T>C , LRG_504:g.15871T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1059-99T>C
ENST00000682162.1:c.585-99T>C ENSP00000508203.1:n.585-99T>C
ENST00000682567.1:n.633-99T>C
ENST00000683521.1:c.556-99T>C ENSP00000506864.1:n.556-99T>C
ENST00000684161.1:n.1672T>C
ENST00000684483.1:c.556-124T>C ENSP00000507894.1:n.556-124T>C
ENST00000366560.4:c.556-99T>C MANE Select ENSP00000355518.4:n.556-99T>C
ENST00000366560.3:c.556-99T>C ENSP00000355518.3:n.556-99T>C
NM_000143.3:c.556-99T>C , LRG_504t1:c.556-99T>C NP_000134.2:n.556-99T>C
XM_011544132.1:c.328-99T>C XP_011542434.1:n.328-99T>C
XM_011544132.2:c.328-99T>C XP_011542434.1:n.328-99T>C
NM_000143.4:c.556-99T>C MANE Select NP_000134.2:n.556-99T>C