Canonical Allele Identifier: CA2580063455

Gene: FH

Linked Data

• ClinVar Variation Id: 1735334
• ClinVar RCV Id: RCV002355388

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512140dup , CM000663.2:g.241512140dup	GRCh38
NC_000001.10:g.241675440dup , CM000663.1:g.241675440dup	GRCh37
NC_000001.9:g.239742063dup	NCBI36
NG_012338.1:g.12615dup , LRG_504:g.12615dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.885dup
ENST00000682162.1:c.411dup	ENSP00000508203.1:n.411dup
ENST00000682567.1:n.459dup
ENST00000683521.1:c.382dup	ENSP00000506864.1:p.Ala128GlyfsTer2
ENST00000684483.1:c.382dup	ENSP00000507894.1:p.Ala128GlyfsTer2
ENST00000366560.4:c.382dup MANE Select	ENSP00000355518.4:p.Ala128GlyfsTer2
ENST00000366560.3:c.382dup	ENSP00000355518.3:p.Ala128GlyfsTer2
ENST00000497042.1:n.78dup
NM_000143.3:c.382dup , LRG_504t1:c.382dup	NP_000134.2:p.Ala128GlyfsTer2
XM_011544132.1:c.154dup	XP_011542434.1:p.Ala52GlyfsTer2
XM_011544132.2:c.154dup	XP_011542434.1:p.Ala52GlyfsTer2
NM_000143.4:c.382dup MANE Select	NP_000134.2:p.Ala128GlyfsTer2