Canonical Allele Identifier: CA2651254726

Gene: FH

Linked Data

• gnomAD v4: 1-241508477-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508477A>G , CM000663.2:g.241508477A>G	GRCh38
NC_000001.10:g.241671777A>G , CM000663.1:g.241671777A>G	GRCh37
NC_000001.9:g.239738400A>G	NCBI36
NG_012338.1:g.16278T>C , LRG_504:g.16278T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1241+126T>C
ENST00000682162.1:c.767+126T>C	ENSP00000508203.1:n.767+126T>C
ENST00000682567.1:n.815+126T>C
ENST00000683521.1:c.738+126T>C	ENSP00000506864.1:n.738+126T>C
ENST00000684161.1:n.1953+126T>C
ENST00000684483.1:c.*134+126T>C	ENSP00000507894.1:n.*134+126T>C
ENST00000366560.4:c.738+126T>C MANE Select	ENSP00000355518.4:n.738+126T>C
ENST00000366560.3:c.738+126T>C	ENSP00000355518.3:n.738+126T>C
NM_000143.3:c.738+126T>C , LRG_504t1:c.738+126T>C	NP_000134.2:n.738+126T>C
XM_011544132.1:c.510+126T>C	XP_011542434.1:n.510+126T>C
XM_011544132.2:c.510+126T>C	XP_011542434.1:n.510+126T>C
NM_000143.4:c.738+126T>C MANE Select	NP_000134.2:n.738+126T>C