Canonical Allele Identifier: CA345442645

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241519603G>T , CM000663.2:g.241519603G>T	GRCh38
NC_000001.10:g.241682903G>T , CM000663.1:g.241682903G>T	GRCh37
NC_000001.9:g.239749526G>T	NCBI36
NG_012338.1:g.5152C>A , LRG_504:g.5152C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.120C>A MANE Select	NP_000134.2:p.Asn40Lys
ENST00000366560.4:c.120C>A MANE Select	ENSP00000355518.4:p.Asn40Lys
NM_000143.3:c.120C>A , LRG_504t1:c.120C>A	NP_000134.2:p.Asn40Lys
ENST00000366560.3:c.120C>A	ENSP00000355518.3:p.Asn40Lys
ENST00000493477.2:n.92C>A
ENST00000682162.1:c.120C>A	ENSP00000508203.1:p.Asn40Lys
ENST00000682567.1:n.197C>A
ENST00000683521.1:c.120C>A	ENSP00000506864.1:p.Asn40Lys
ENST00000684483.1:c.120C>A	ENSP00000507894.1:p.Asn40Lys
XM_011544132.2:c.-640C>A	XP_011542434.1:n.-640C>A