Canonical Allele Identifier: CA1229580558

Gene: FH

Linked Data

• dbSNP Id: rs1659984589
• gnomAD v4: 1-241508465-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508465T>C , CM000663.2:g.241508465T>C	GRCh38
NC_000001.10:g.241671765T>C , CM000663.1:g.241671765T>C	GRCh37
NC_000001.9:g.239738388T>C	NCBI36
NG_012338.1:g.16290A>G , LRG_504:g.16290A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1241+138A>G
ENST00000682162.1:c.767+138A>G	ENSP00000508203.1:n.767+138A>G
ENST00000682567.1:n.815+138A>G
ENST00000683521.1:c.738+138A>G	ENSP00000506864.1:n.738+138A>G
ENST00000684161.1:n.1953+138A>G
ENST00000684483.1:c.*134+138A>G	ENSP00000507894.1:n.*134+138A>G
ENST00000366560.4:c.738+138A>G MANE Select	ENSP00000355518.4:n.738+138A>G
ENST00000366560.3:c.738+138A>G	ENSP00000355518.3:n.738+138A>G
NM_000143.3:c.738+138A>G , LRG_504t1:c.738+138A>G	NP_000134.2:n.738+138A>G
XM_011544132.1:c.510+138A>G	XP_011542434.1:n.510+138A>G
XM_011544132.2:c.510+138A>G	XP_011542434.1:n.510+138A>G
NM_000143.4:c.738+138A>G MANE Select	NP_000134.2:n.738+138A>G