Canonical Allele Identifier: CA2748368339

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508429C>T , CM000663.2:g.241508429C>T	GRCh38
NC_000001.10:g.241671729C>T , CM000663.1:g.241671729C>T	GRCh37
NC_000001.9:g.239738352C>T	NCBI36
NG_012338.1:g.16326G>A , LRG_504:g.16326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1241+174G>A
ENST00000682162.1:c.767+174G>A	ENSP00000508203.1:n.767+174G>A
ENST00000682567.1:n.815+174G>A
ENST00000683521.1:c.738+174G>A	ENSP00000506864.1:n.738+174G>A
ENST00000684161.1:n.1953+174G>A
ENST00000684483.1:c.*134+174G>A	ENSP00000507894.1:n.*134+174G>A
ENST00000366560.4:c.738+174G>A MANE Select	ENSP00000355518.4:n.738+174G>A
ENST00000366560.3:c.738+174G>A	ENSP00000355518.3:n.738+174G>A
NM_000143.3:c.738+174G>A , LRG_504t1:c.738+174G>A	NP_000134.2:n.738+174G>A
XM_011544132.1:c.510+174G>A	XP_011542434.1:n.510+174G>A
XM_011544132.2:c.510+174G>A	XP_011542434.1:n.510+174G>A
NM_000143.4:c.738+174G>A MANE Select	NP_000134.2:n.738+174G>A