Canonical Allele Identifier: CA2698412712
Gene: FH HGNC NCBI

Linked Data

dbSNP Id: rs2147914794

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502416del , CM000663.2:g.241502416del GRCh38
NC_000001.10:g.241665716del , CM000663.1:g.241665716del GRCh37
NC_000001.9:g.239732339del NCBI36
NG_012338.1:g.22344del , LRG_504:g.22344del

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1739+32del
ENST00000682162.1:c.1265+32del ENSP00000508203.1:n.1265+32del
ENST00000682567.1:n.2816del
ENST00000683521.1:c.1236+32del ENSP00000506864.1:n.1236+32del
ENST00000684161.1:n.2451+32del
ENST00000684483.1:c.*632+32del ENSP00000507894.1:n.*632+32del
ENST00000366560.4:c.1236+32del MANE Select ENSP00000355518.4:n.1236+32del
ENST00000366560.3:c.1236+32del ENSP00000355518.3:n.1236+32del
NM_000143.3:c.1236+32del , LRG_504t1:c.1236+32del NP_000134.2:n.1236+32del
XM_011544132.1:c.1008+32del XP_011542434.1:n.1008+32del
XM_011544132.2:c.1008+32del XP_011542434.1:n.1008+32del
NM_000143.4:c.1236+32del MANE Select NP_000134.2:n.1236+32del