Canonical Allele Identifier: CA1139771874

Gene: FH

Linked Data

• ClinVar Variation Id: 2573279
• ClinVar RCV Id: RCV003316968 ; RCV003466053 ; RCV003575074

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512034del , CM000663.2:g.241512034del	GRCh38
NC_000001.10:g.241675334del , CM000663.1:g.241675334del	GRCh37
NC_000001.9:g.239741957del	NCBI36
NG_012338.1:g.12723del , LRG_504:g.12723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.993del
ENST00000682162.1:c.519del	ENSP00000508203.1:n.519del
ENST00000682567.1:n.567del
ENST00000683521.1:c.490del	ENSP00000506864.1:p.Met164CysfsTer2
ENST00000684483.1:c.490del	ENSP00000507894.1:p.Met164CysfsTer2
ENST00000366560.4:c.490del MANE Select	ENSP00000355518.4:p.Met164CysfsTer2
ENST00000366560.3:c.490del	ENSP00000355518.3:p.Met164CysfsTer2
ENST00000497042.1:n.186del
NM_000143.3:c.490del , LRG_504t1:c.490del	NP_000134.2:p.Met164CysfsTer2
XM_011544132.1:c.262del	XP_011542434.1:p.Met88CysfsTer2
XM_011544132.2:c.262del	XP_011542434.1:p.Met88CysfsTer2
NM_000143.4:c.490del MANE Select	NP_000134.2:p.Met164CysfsTer2