Canonical Allele Identifier: CA1478485

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500544A>G , CM000663.2:g.241500544A>G	GRCh38
NC_000001.10:g.241663844A>G , CM000663.1:g.241663844A>G	GRCh37
NC_000001.9:g.239730467A>G	NCBI36
NG_012338.1:g.24211T>C , LRG_504:g.24211T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.1283T>C MANE Select	NP_000134.2:p.Val428Ala
ENST00000366560.4:c.1283T>C MANE Select	ENSP00000355518.4:p.Val428Ala
NM_000143.3:c.1283T>C , LRG_504t1:c.1283T>C	NP_000134.2:p.Val428Ala
ENST00000366560.3:c.1283T>C	ENSP00000355518.3:p.Val428Ala
ENST00000493477.2:n.1786T>C
ENST00000682162.1:c.1312T>C	ENSP00000508203.1:n.1312T>C
ENST00000682567.1:n.4683T>C
ENST00000683521.1:c.1283T>C	ENSP00000506864.1:p.Val428Ala
ENST00000684161.1:n.2498T>C
ENST00000684483.1:c.*679T>C	ENSP00000507894.1:n.*679T>C
XM_011544132.1:c.1055T>C	XP_011542434.1:p.Val352Ala
XM_011544132.2:c.1055T>C	XP_011542434.1:p.Val352Ala