Canonical Allele Identifier: CA2580063437

Gene: FH

Linked Data

• ClinVar Variation Id: 1748075
• ClinVar RCV Id: RCV002351765

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511971del , CM000663.2:g.241511971del	GRCh38
NC_000001.10:g.241675271del , CM000663.1:g.241675271del	GRCh37
NC_000001.9:g.239741894del	NCBI36
NG_012338.1:g.12784del , LRG_504:g.12784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1054del
ENST00000682162.1:c.580del	ENSP00000508203.1:n.580del
ENST00000682567.1:n.628del
ENST00000683521.1:c.551del	ENSP00000506864.1:p.Ser184ThrfsTer18
ENST00000684483.1:c.551del	ENSP00000507894.1:p.Ser184ThrfsTer13
ENST00000366560.4:c.551del MANE Select	ENSP00000355518.4:p.Ser184ThrfsTer18
ENST00000366560.3:c.551del	ENSP00000355518.3:p.Ser184ThrfsTer18
ENST00000497042.1:n.247del
NM_000143.3:c.551del , LRG_504t1:c.551del	NP_000134.2:p.Ser184ThrfsTer18
XM_011544132.1:c.323del	XP_011542434.1:p.Ser108ThrfsTer18
XM_011544132.2:c.323del	XP_011542434.1:p.Ser108ThrfsTer18
NM_000143.4:c.551del MANE Select	NP_000134.2:p.Ser184ThrfsTer18