Canonical Allele Identifier: CA40327915

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504192C>A , CM000663.2:g.241504192C>A	GRCh38
NC_000001.10:g.241667492C>A , CM000663.1:g.241667492C>A	GRCh37
NC_000001.9:g.239734115C>A	NCBI36
NG_012338.1:g.20563G>T , LRG_504:g.20563G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.958G>T MANE Select	NP_000134.2:p.Ala320Ser
ENST00000366560.4:c.958G>T MANE Select	ENSP00000355518.4:p.Ala320Ser
NM_000143.3:c.958G>T , LRG_504t1:c.958G>T	NP_000134.2:p.Ala320Ser
ENST00000366560.3:c.958G>T	ENSP00000355518.3:p.Ala320Ser
ENST00000493477.2:n.1461G>T
ENST00000682162.1:c.987G>T	ENSP00000508203.1:n.987G>T
ENST00000682567.1:n.1035G>T
ENST00000683521.1:c.958G>T	ENSP00000506864.1:p.Ala320Ser
ENST00000684161.1:n.2173G>T
ENST00000684483.1:c.*354G>T	ENSP00000507894.1:n.*354G>T
XM_011544132.1:c.730G>T	XP_011542434.1:p.Ala244Ser
XM_011544132.2:c.730G>T	XP_011542434.1:p.Ala244Ser