Canonical Allele Identifier: CA1229580565

Gene: FH

Linked Data

• dbSNP Id: rs1659984961
• gnomAD v4: 1-241508489-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508489C>A , CM000663.2:g.241508489C>A	GRCh38
NC_000001.10:g.241671789C>A , CM000663.1:g.241671789C>A	GRCh37
NC_000001.9:g.239738412C>A	NCBI36
NG_012338.1:g.16266G>T , LRG_504:g.16266G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1241+114G>T
ENST00000682162.1:c.767+114G>T	ENSP00000508203.1:n.767+114G>T
ENST00000682567.1:n.815+114G>T
ENST00000683521.1:c.738+114G>T	ENSP00000506864.1:n.738+114G>T
ENST00000684161.1:n.1953+114G>T
ENST00000684483.1:c.*134+114G>T	ENSP00000507894.1:n.*134+114G>T
ENST00000366560.4:c.738+114G>T MANE Select	ENSP00000355518.4:n.738+114G>T
ENST00000366560.3:c.738+114G>T	ENSP00000355518.3:n.738+114G>T
NM_000143.3:c.738+114G>T , LRG_504t1:c.738+114G>T	NP_000134.2:n.738+114G>T
XM_011544132.1:c.510+114G>T	XP_011542434.1:n.510+114G>T
XM_011544132.2:c.510+114G>T	XP_011542434.1:n.510+114G>T
NM_000143.4:c.738+114G>T MANE Select	NP_000134.2:n.738+114G>T