Canonical Allele Identifier: CA2499214632

Gene: FH

Linked Data

• ClinVar Variation Id: 1073160
• ClinVar RCV Id: RCV002551547
• dbSNP Id: rs2147913317

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500568_241500571dup , CM000663.2:g.241500568_241500571dup	GRCh38
NC_000001.10:g.241663868_241663871dup , CM000663.1:g.241663868_241663871dup	GRCh37
NC_000001.9:g.239730491_239730494dup	NCBI36
NG_012338.1:g.24187_24190dup , LRG_504:g.24187_24190dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1762_1765dup
ENST00000682162.1:c.1288_1291dup	ENSP00000508203.1:n.1288_1291dup
ENST00000682567.1:n.4659_4662dup
ENST00000683521.1:c.1259_1262dup	ENSP00000506864.1:p.Arg421SerfsTer32
ENST00000684161.1:n.2474_2477dup
ENST00000684483.1:c.*655_*658dup	ENSP00000507894.1:n.*655_*658dup
ENST00000366560.4:c.1259_1262dup MANE Select	ENSP00000355518.4:p.Arg421SerfsTer32
ENST00000366560.3:c.1259_1262dup	ENSP00000355518.3:p.Arg421SerfsTer32
NM_000143.3:c.1259_1262dup , LRG_504t1:c.1259_1262dup	NP_000134.2:p.Arg421SerfsTer32
XM_011544132.1:c.1031_1034dup	XP_011542434.1:p.Arg345SerfsTer32
XM_011544132.2:c.1031_1034dup	XP_011542434.1:p.Arg345SerfsTer32
NM_000143.4:c.1259_1262dup MANE Select	NP_000134.2:p.Arg421SerfsTer32