Canonical Allele Identifier: CA2580063487

Gene: FH

Linked Data

• ClinVar Variation Id: 1782521
• ClinVar RCV Id: RCV002410554

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504082del , CM000663.2:g.241504082del	GRCh38
NC_000001.10:g.241667382del , CM000663.1:g.241667382del	GRCh37
NC_000001.9:g.239734005del	NCBI36
NG_012338.1:g.20673del , LRG_504:g.20673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1571del
ENST00000682162.1:c.1097del	ENSP00000508203.1:n.1097del
ENST00000682567.1:n.1145del
ENST00000683521.1:c.1068del	ENSP00000506864.1:p.Ile357SerfsTer16
ENST00000684161.1:n.2283del
ENST00000684483.1:c.*464del	ENSP00000507894.1:n.*464del
ENST00000366560.4:c.1068del MANE Select	ENSP00000355518.4:p.Ile357SerfsTer16
ENST00000366560.3:c.1068del	ENSP00000355518.3:p.Ile357SerfsTer16
NM_000143.3:c.1068del , LRG_504t1:c.1068del	NP_000134.2:p.Ile357SerfsTer16
XM_011544132.1:c.840del	XP_011542434.1:p.Ile281SerfsTer16
XM_011544132.2:c.840del	XP_011542434.1:p.Ile281SerfsTer16
NM_000143.4:c.1068del MANE Select	NP_000134.2:p.Ile357SerfsTer16