Canonical Allele Identifier: CA345440406

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241513602C>T , CM000663.2:g.241513602C>T	GRCh38
NC_000001.10:g.241676902C>T , CM000663.1:g.241676902C>T	GRCh37
NC_000001.9:g.239743525C>T	NCBI36
NG_012338.1:g.11153G>A , LRG_504:g.11153G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.378+1G>A MANE Select	NP_000134.2:n.378+1G>A
ENST00000366560.4:c.378+1G>A MANE Select	ENSP00000355518.4:n.378+1G>A
NM_000143.3:c.378+1G>A , LRG_504t1:c.378+1G>A	NP_000134.2:n.378+1G>A
ENST00000366560.3:c.378+1G>A	ENSP00000355518.3:n.378+1G>A
ENST00000493477.2:n.881+1G>A
ENST00000497042.1:n.74+1G>A
ENST00000682162.1:c.407+1G>A	ENSP00000508203.1:n.407+1G>A
ENST00000682567.1:n.455+1G>A
ENST00000683521.1:c.378+1G>A	ENSP00000506864.1:n.378+1G>A
ENST00000684483.1:c.378+1G>A	ENSP00000507894.1:n.378+1G>A
XM_011544132.1:c.150+1G>A	XP_011542434.1:n.150+1G>A
XM_011544132.2:c.150+1G>A	XP_011542434.1:n.150+1G>A