Canonical Allele Identifier: CA913189954

Gene: FH

Linked Data

• ClinVar Variation Id: 632105
• ClinVar RCV Id: RCV000778976
• dbSNP Id: rs1558397845

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504203del , CM000663.2:g.241504203del	GRCh38
NC_000001.10:g.241667503del , CM000663.1:g.241667503del	GRCh37
NC_000001.9:g.239734126del	NCBI36
NG_012338.1:g.20552del , LRG_504:g.20552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1450del
ENST00000682162.1:c.976del	ENSP00000508203.1:n.976del
ENST00000682567.1:n.1024del
ENST00000683521.1:c.947del	ENSP00000506864.1:p.Ala316ValfsTer13
ENST00000684161.1:n.2162del
ENST00000684483.1:c.*343del	ENSP00000507894.1:n.*343del
ENST00000366560.4:c.947del MANE Select	ENSP00000355518.4:p.Ala316ValfsTer13
ENST00000366560.3:c.947del	ENSP00000355518.3:p.Ala316ValfsTer13
NM_000143.3:c.947del , LRG_504t1:c.947del	NP_000134.2:p.Ala316ValfsTer13
XM_011544132.1:c.719del	XP_011542434.1:p.Ala240ValfsTer13
XM_011544132.2:c.719del	XP_011542434.1:p.Ala240ValfsTer13
NM_000143.4:c.947del MANE Select	NP_000134.2:p.Ala316ValfsTer13