Canonical Allele Identifier: CA345441658

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517195G>C , CM000663.2:g.241517195G>C	GRCh38
NC_000001.10:g.241680495G>C , CM000663.1:g.241680495G>C	GRCh37
NC_000001.9:g.239747118G>C	NCBI36
NG_012338.1:g.7560C>G , LRG_504:g.7560C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.254C>G MANE Select	NP_000134.2:p.Thr85Arg
ENST00000366560.4:c.254C>G MANE Select	ENSP00000355518.4:p.Thr85Arg
NM_000143.3:c.254C>G , LRG_504t1:c.254C>G	NP_000134.2:p.Thr85Arg
ENST00000366560.3:c.254C>G	ENSP00000355518.3:p.Thr85Arg
ENST00000493477.1:n.367C>G
ENST00000493477.2:n.757C>G
ENST00000682162.1:c.283C>G	ENSP00000508203.1:n.283C>G
ENST00000682567.1:n.331C>G
ENST00000683521.1:c.254C>G	ENSP00000506864.1:p.Thr85Arg
ENST00000684483.1:c.254C>G	ENSP00000507894.1:p.Thr85Arg
XM_011544132.1:c.26C>G	XP_011542434.1:p.Thr9Arg
XM_011544132.2:c.26C>G	XP_011542434.1:p.Thr9Arg