Canonical Allele Identifier: CA2580610703

Gene: FH

Linked Data

• ClinVar Variation Id: 2503792
• ClinVar RCV Id: RCV003230783

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504195_241504197dup , CM000663.2:g.241504195_241504197dup	GRCh38
NC_000001.10:g.241667495_241667497dup , CM000663.1:g.241667495_241667497dup	GRCh37
NC_000001.9:g.239734118_239734120dup	NCBI36
NG_012338.1:g.20559_20561dup , LRG_504:g.20559_20561dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1457_1459dup
ENST00000682162.1:c.983_985dup	ENSP00000508203.1:n.983_985dup
ENST00000682567.1:n.1031_1033dup
ENST00000683521.1:c.954_956dup	ENSP00000506864.1:p.Asp319_Ala320insAsp
ENST00000684161.1:n.2169_2171dup
ENST00000684483.1:c.*350_*352dup	ENSP00000507894.1:n.*350_*352dup
ENST00000366560.4:c.954_956dup MANE Select	ENSP00000355518.4:p.Asp319_Ala320insAsp
ENST00000366560.3:c.954_956dup	ENSP00000355518.3:p.Asp319_Ala320insAsp
NM_000143.3:c.954_956dup , LRG_504t1:c.954_956dup	NP_000134.2:p.Asp319_Ala320insAsp
XM_011544132.1:c.726_728dup	XP_011542434.1:p.Asp243_Ala244insAsp
XM_011544132.2:c.726_728dup	XP_011542434.1:p.Asp243_Ala244insAsp
NM_000143.4:c.954_956dup MANE Select	NP_000134.2:p.Asp319_Ala320insAsp