Canonical Allele Identifier: CA1014011612

Gene: FH

Linked Data

• dbSNP Id: rs1659986401
• gnomAD v3: 1-241508529-T-A
• gnomAD v4: 1-241508529-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508529T>A , CM000663.2:g.241508529T>A	GRCh38
NC_000001.10:g.241671829T>A , CM000663.1:g.241671829T>A	GRCh37
NC_000001.9:g.239738452T>A	NCBI36
NG_012338.1:g.16226A>T , LRG_504:g.16226A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1241+74A>T
ENST00000682162.1:c.767+74A>T	ENSP00000508203.1:n.767+74A>T
ENST00000682567.1:n.815+74A>T
ENST00000683521.1:c.738+74A>T	ENSP00000506864.1:n.738+74A>T
ENST00000684161.1:n.1953+74A>T
ENST00000684483.1:c.*134+74A>T	ENSP00000507894.1:n.*134+74A>T
ENST00000366560.4:c.738+74A>T MANE Select	ENSP00000355518.4:n.738+74A>T
ENST00000366560.3:c.738+74A>T	ENSP00000355518.3:n.738+74A>T
NM_000143.3:c.738+74A>T , LRG_504t1:c.738+74A>T	NP_000134.2:n.738+74A>T
XM_011544132.1:c.510+74A>T	XP_011542434.1:n.510+74A>T
XM_011544132.2:c.510+74A>T	XP_011542434.1:n.510+74A>T
NM_000143.4:c.738+74A>T MANE Select	NP_000134.2:n.738+74A>T