Canonical Allele Identifier: CA2499214637

Gene: FH

Linked Data

• ClinVar Variation Id: 1298467
• ClinVar RCV Id: RCV001726797
• dbSNP Id: rs2147919590

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508707del , CM000663.2:g.241508707del	GRCh38
NC_000001.10:g.241672007del , CM000663.1:g.241672007del	GRCh37
NC_000001.9:g.239738630del	NCBI36
NG_012338.1:g.16048del , LRG_504:g.16048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1137del
ENST00000682162.1:c.663del	ENSP00000508203.1:n.663del
ENST00000682567.1:n.711del
ENST00000683521.1:c.634del	ENSP00000506864.1:p.Gln212ArgfsTer?
ENST00000684161.1:n.1849del
ENST00000684483.1:c.*30del	ENSP00000507894.1:n.*30del
ENST00000366560.4:c.634del MANE Select	ENSP00000355518.4:p.Gln212ArgfsTer?
ENST00000366560.3:c.634del	ENSP00000355518.3:p.Gln212ArgfsTer?
NM_000143.3:c.634del , LRG_504t1:c.634del	NP_000134.2:p.Gln212ArgfsTer?
XM_011544132.1:c.406del	XP_011542434.1:p.Gln136ArgfsTer?
XM_011544132.2:c.406del	XP_011542434.1:p.Gln136ArgfsTer?
NM_000143.4:c.634del MANE Select	NP_000134.2:p.Gln212ArgfsTer?