Canonical Allele Identifier: CA40336041

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517297C>T , CM000663.2:g.241517297C>T	GRCh38
NC_000001.10:g.241680597C>T , CM000663.1:g.241680597C>T	GRCh37
NC_000001.9:g.239747220C>T	NCBI36
NG_012338.1:g.7458G>A , LRG_504:g.7458G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.152G>A MANE Select	NP_000134.2:p.Arg51Gln
ENST00000366560.4:c.152G>A MANE Select	ENSP00000355518.4:p.Arg51Gln
NM_000143.3:c.152G>A , LRG_504t1:c.152G>A	NP_000134.2:p.Arg51Gln
ENST00000366560.3:c.152G>A	ENSP00000355518.3:p.Arg51Gln
ENST00000493477.1:n.265G>A
ENST00000493477.2:n.655G>A
ENST00000682162.1:c.181G>A	ENSP00000508203.1:p.Gly61Arg
ENST00000682567.1:n.229G>A
ENST00000683521.1:c.152G>A	ENSP00000506864.1:p.Arg51Gln
ENST00000684483.1:c.152G>A	ENSP00000507894.1:p.Arg51Gln
XM_011544132.1:c.-77G>A	XP_011542434.1:n.-77G>A
XM_011544132.2:c.-77G>A	XP_011542434.1:n.-77G>A