Canonical Allele Identifier: CA2651255650

Gene: FH

Linked Data

• ClinVar Variation Id: 2857407
• ClinVar RCV Id: RCV003703837
• gnomAD v4: 1-241517319-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517319A>C , CM000663.2:g.241517319A>C	GRCh38
NC_000001.10:g.241680619A>C , CM000663.1:g.241680619A>C	GRCh37
NC_000001.9:g.239747242A>C	NCBI36
NG_012338.1:g.7436T>G , LRG_504:g.7436T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.636-3T>G
ENST00000682162.1:c.162-3T>G	ENSP00000508203.1:n.162-3T>G
ENST00000682567.1:n.210-3T>G
ENST00000683521.1:c.133-3T>G	ENSP00000506864.1:n.133-3T>G
ENST00000684483.1:c.133-3T>G	ENSP00000507894.1:n.133-3T>G
ENST00000366560.4:c.133-3T>G MANE Select	ENSP00000355518.4:n.133-3T>G
ENST00000366560.3:c.133-3T>G	ENSP00000355518.3:n.133-3T>G
ENST00000493477.1:n.246-3T>G
NM_000143.3:c.133-3T>G , LRG_504t1:c.133-3T>G	NP_000134.2:n.133-3T>G
XM_011544132.1:c.-96-3T>G	XP_011542434.1:n.-96-3T>G
XM_011544132.2:c.-96-3T>G	XP_011542434.1:n.-96-3T>G
NM_000143.4:c.133-3T>G MANE Select	NP_000134.2:n.133-3T>G