Canonical Allele Identifier: CA1139771874
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 2573279

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