Canonical Allele Identifier: CA345439418

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508740T>C , CM000663.2:g.241508740T>C	GRCh38
NC_000001.10:g.241672040T>C , CM000663.1:g.241672040T>C	GRCh37
NC_000001.9:g.239738663T>C	NCBI36
NG_012338.1:g.16015A>G , LRG_504:g.16015A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.601A>G MANE Select	NP_000134.2:p.Ile201Val
ENST00000366560.4:c.601A>G MANE Select	ENSP00000355518.4:p.Ile201Val
NM_000143.3:c.601A>G , LRG_504t1:c.601A>G	NP_000134.2:p.Ile201Val
ENST00000366560.3:c.601A>G	ENSP00000355518.3:p.Ile201Val
ENST00000493477.2:n.1104A>G
ENST00000682162.1:c.630A>G	ENSP00000508203.1:n.630A>G
ENST00000682567.1:n.678A>G
ENST00000683521.1:c.601A>G	ENSP00000506864.1:p.Ile201Val
ENST00000684161.1:n.1816A>G
ENST00000684483.1:c.576A>G	ENSP00000507894.1:p.Gln192=
XM_011544132.1:c.373A>G	XP_011542434.1:p.Ile125Val
XM_011544132.2:c.373A>G	XP_011542434.1:p.Ile125Val