Canonical Allele Identifier: CA1229580735
Gene: FH HGNC NCBI

Linked Data

dbSNP Id: rs1660001643

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508841_241508844del , CM000663.2:g.241508841_241508844del GRCh38
NC_000001.10:g.241672141_241672144del , CM000663.1:g.241672141_241672144del GRCh37
NC_000001.9:g.239738764_239738767del NCBI36
NG_012338.1:g.15915_15918del , LRG_504:g.15915_15918del

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1059-55_1059-52del
ENST00000682162.1:c.585-55_585-52del ENSP00000508203.1:n.585-55_585-52del
ENST00000682567.1:n.633-55_633-52del
ENST00000683521.1:c.556-55_556-52del ENSP00000506864.1:n.556-55_556-52del
ENST00000684161.1:n.1716_1719del
ENST00000684483.1:c.556-80_556-77del ENSP00000507894.1:n.556-80_556-77del
ENST00000366560.4:c.556-55_556-52del MANE Select ENSP00000355518.4:n.556-55_556-52del
ENST00000366560.3:c.556-55_556-52del ENSP00000355518.3:n.556-55_556-52del
NM_000143.3:c.556-55_556-52del , LRG_504t1:c.556-55_556-52del NP_000134.2:n.556-55_556-52del
XM_011544132.1:c.328-55_328-52del XP_011542434.1:n.328-55_328-52del
XM_011544132.2:c.328-55_328-52del XP_011542434.1:n.328-55_328-52del
NM_000143.4:c.556-55_556-52del MANE Select NP_000134.2:n.556-55_556-52del