Canonical Allele Identifier: CA345440888

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241513680G>C , CM000663.2:g.241513680G>C	GRCh38
NC_000001.10:g.241676980G>C , CM000663.1:g.241676980G>C	GRCh37
NC_000001.9:g.239743603G>C	NCBI36
NG_012338.1:g.11075C>G , LRG_504:g.11075C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.301C>G MANE Select	NP_000134.2:p.Arg101Gly
ENST00000366560.4:c.301C>G MANE Select	ENSP00000355518.4:p.Arg101Gly
NM_000143.3:c.301C>G , LRG_504t1:c.301C>G	NP_000134.2:p.Arg101Gly
ENST00000366560.3:c.301C>G	ENSP00000355518.3:p.Arg101Gly
ENST00000493477.1:n.414C>G
ENST00000493477.2:n.804C>G
ENST00000682162.1:c.330C>G	ENSP00000508203.1:n.330C>G
ENST00000682567.1:n.378C>G
ENST00000683521.1:c.301C>G	ENSP00000506864.1:p.Arg101Gly
ENST00000684483.1:c.301C>G	ENSP00000507894.1:p.Arg101Gly
XM_011544132.1:c.73C>G	XP_011542434.1:p.Arg25Gly
XM_011544132.2:c.73C>G	XP_011542434.1:p.Arg25Gly