Canonical Allele Identifier: CA1229580717

Gene: FH

Linked Data

• ClinVar Variation Id: 2587055
• ClinVar RCV Id: RCV003339128
• dbSNP Id: rs1660000323

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508796T>C , CM000663.2:g.241508796T>C	GRCh38
NC_000001.10:g.241672096T>C , CM000663.1:g.241672096T>C	GRCh37
NC_000001.9:g.239738719T>C	NCBI36
NG_012338.1:g.15959A>G , LRG_504:g.15959A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1059-11A>G
ENST00000682162.1:c.585-11A>G	ENSP00000508203.1:n.585-11A>G
ENST00000682567.1:n.633-11A>G
ENST00000683521.1:c.556-11A>G	ENSP00000506864.1:n.556-11A>G
ENST00000684161.1:n.1760A>G
ENST00000684483.1:c.556-36A>G	ENSP00000507894.1:n.556-36A>G
ENST00000366560.4:c.556-11A>G MANE Select	ENSP00000355518.4:n.556-11A>G
ENST00000366560.3:c.556-11A>G	ENSP00000355518.3:n.556-11A>G
NM_000143.3:c.556-11A>G , LRG_504t1:c.556-11A>G	NP_000134.2:n.556-11A>G
XM_011544132.1:c.328-11A>G	XP_011542434.1:n.328-11A>G
XM_011544132.2:c.328-11A>G	XP_011542434.1:n.328-11A>G
NM_000143.4:c.556-11A>G MANE Select	NP_000134.2:n.556-11A>G