Canonical Allele Identifier: CA2499214634

Gene: FH

Linked Data

• ClinVar Variation Id: 1073357
• ClinVar RCV Id: RCV003104067
• dbSNP Id: rs2147916324

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504216del , CM000663.2:g.241504216del	GRCh38
NC_000001.10:g.241667516del , CM000663.1:g.241667516del	GRCh37
NC_000001.9:g.239734139del	NCBI36
NG_012338.1:g.20541del , LRG_504:g.20541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1439del
ENST00000682162.1:c.965del	ENSP00000508203.1:n.965del
ENST00000682567.1:n.1013del
ENST00000683521.1:c.936del	ENSP00000506864.1:p.Phe312LeufsTer17
ENST00000684161.1:n.2151del
ENST00000684483.1:c.*332del	ENSP00000507894.1:n.*332del
ENST00000366560.4:c.936del MANE Select	ENSP00000355518.4:p.Phe312LeufsTer17
ENST00000366560.3:c.936del	ENSP00000355518.3:p.Phe312LeufsTer17
NM_000143.3:c.936del , LRG_504t1:c.936del	NP_000134.2:p.Phe312LeufsTer17
XM_011544132.1:c.708del	XP_011542434.1:p.Phe236LeufsTer17
XM_011544132.2:c.708del	XP_011542434.1:p.Phe236LeufsTer17
NM_000143.4:c.936del MANE Select	NP_000134.2:p.Phe312LeufsTer17