Canonical Allele Identifier: CA1478782

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241519688C>A , CM000663.2:g.241519688C>A	GRCh38
NC_000001.10:g.241682988C>A , CM000663.1:g.241682988C>A	GRCh37
NC_000001.9:g.239749611C>A	NCBI36
NG_012338.1:g.5067G>T , LRG_504:g.5067G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.35G>T MANE Select	NP_000134.2:p.Arg12Leu
ENST00000366560.4:c.35G>T MANE Select	ENSP00000355518.4:p.Arg12Leu
NM_000143.3:c.35G>T , LRG_504t1:c.35G>T	NP_000134.2:p.Arg12Leu
ENST00000366560.3:c.35G>T	ENSP00000355518.3:p.Arg12Leu
ENST00000493477.2:n.7G>T
ENST00000682162.1:c.35G>T	ENSP00000508203.1:p.Arg12Leu
ENST00000682567.1:n.112G>T
ENST00000683521.1:c.35G>T	ENSP00000506864.1:p.Arg12Leu
ENST00000684483.1:c.35G>T	ENSP00000507894.1:p.Arg12Leu
XM_011544132.2:c.-725G>T	XP_011542434.1:n.-725G>T