Canonical Allele Identifier: CA2651255294

Gene: FH

Linked Data

• gnomAD v4: 1-241512134-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512136del , CM000663.2:g.241512136del	GRCh38
NC_000001.10:g.241675436del , CM000663.1:g.241675436del	GRCh37
NC_000001.9:g.239742059del	NCBI36
NG_012338.1:g.12620del , LRG_504:g.12620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.890del
ENST00000682162.1:c.416del	ENSP00000508203.1:n.416del
ENST00000682567.1:n.464del
ENST00000683521.1:c.387del	ENSP00000506864.1:p.Gly130ValfsTer3
ENST00000684483.1:c.387del	ENSP00000507894.1:p.Gly130ValfsTer3
ENST00000366560.4:c.387del MANE Select	ENSP00000355518.4:p.Gly130ValfsTer3
ENST00000366560.3:c.387del	ENSP00000355518.3:p.Gly130ValfsTer3
ENST00000497042.1:n.83del
NM_000143.3:c.387del , LRG_504t1:c.387del	NP_000134.2:p.Gly130ValfsTer3
XM_011544132.1:c.159del	XP_011542434.1:p.Gly54ValfsTer3
XM_011544132.2:c.159del	XP_011542434.1:p.Gly54ValfsTer3
NM_000143.4:c.387del MANE Select	NP_000134.2:p.Gly130ValfsTer3