Canonical Allele Identifier: CA2580063485

Gene: FH

Linked Data

• ClinVar Variation Id: 1709012
• ClinVar RCV Id: RCV002288296

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504063_241504098dup , CM000663.2:g.241504063_241504098dup	GRCh38
NC_000001.10:g.241667363_241667398dup , CM000663.1:g.241667363_241667398dup	GRCh37
NC_000001.9:g.239733986_239734021dup	NCBI36
NG_012338.1:g.20661_20696dup , LRG_504:g.20661_20696dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1559_1594dup
ENST00000682162.1:c.1085_1120dup	ENSP00000508203.1:n.1085_1120dup
ENST00000682567.1:n.1133_1168dup
ENST00000683521.1:c.1056_1091dup	ENSP00000506864.1:p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluA...
ENST00000684161.1:n.2271_2306dup
ENST00000684483.1:c.*452_*487dup	ENSP00000507894.1:n.*452_*487dup
ENST00000366560.4:c.1056_1091dup MANE Select	ENSP00000355518.4:p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluA...
ENST00000366560.3:c.1056_1091dup	ENSP00000355518.3:p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluA...
NM_000143.3:c.1056_1091dup , LRG_504t1:c.1056_1091dup	NP_000134.2:p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluAsnGluP...
XM_011544132.1:c.828_863dup	XP_011542434.1:p.Gly288_Ser289insLeuGlyGluLeuIleLeuProGluAsnG...
XM_011544132.2:c.828_863dup	XP_011542434.1:p.Gly288_Ser289insLeuGlyGluLeuIleLeuProGluAsnG...
NM_000143.4:c.1056_1091dup MANE Select	NP_000134.2:p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluAsnGluP...