Canonical Allele Identifier: CA915942107

Gene: FH

Linked Data

• ClinVar Variation Id: 826525
• ClinVar RCV Id: RCV001025484
• dbSNP Id: rs1573883195

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508681dup , CM000663.2:g.241508681dup	GRCh38
NC_000001.10:g.241671981dup , CM000663.1:g.241671981dup	GRCh37
NC_000001.9:g.239738604dup	NCBI36
NG_012338.1:g.16077dup , LRG_504:g.16077dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1166dup
ENST00000682162.1:c.692dup	ENSP00000508203.1:n.692dup
ENST00000682567.1:n.740dup
ENST00000683521.1:c.663dup	ENSP00000506864.1:p.Ser222IlefsTer28
ENST00000684161.1:n.1878dup
ENST00000684483.1:c.*59dup	ENSP00000507894.1:n.*59dup
ENST00000366560.4:c.663dup MANE Select	ENSP00000355518.4:p.Ser222IlefsTer28
ENST00000366560.3:c.663dup	ENSP00000355518.3:p.Ser222IlefsTer28
NM_000143.3:c.663dup , LRG_504t1:c.663dup	NP_000134.2:p.Ser222IlefsTer28
XM_011544132.1:c.435dup	XP_011542434.1:p.Ser146IlefsTer28
XM_011544132.2:c.435dup	XP_011542434.1:p.Ser146IlefsTer28
NM_000143.4:c.663dup MANE Select	NP_000134.2:p.Ser222IlefsTer28