Canonical Allele Identifier: CA2651254930
Gene: FH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502658dup , CM000663.2:g.241502658dup GRCh38
NC_000001.10:g.241665958dup , CM000663.1:g.241665958dup GRCh37
NC_000001.9:g.239732581dup NCBI36
NG_012338.1:g.22097dup , LRG_504:g.22097dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1612-88dup
ENST00000682162.1:c.1138-88dup ENSP00000508203.1:n.1138-88dup
ENST00000682567.1:n.2569dup
ENST00000683521.1:c.1109-88dup ENSP00000506864.1:n.1109-88dup
ENST00000684161.1:n.2324-88dup
ENST00000684483.1:c.*505-88dup ENSP00000507894.1:n.*505-88dup
ENST00000366560.4:c.1109-88dup MANE Select ENSP00000355518.4:n.1109-88dup
ENST00000366560.3:c.1109-88dup ENSP00000355518.3:n.1109-88dup
NM_000143.3:c.1109-88dup , LRG_504t1:c.1109-88dup NP_000134.2:n.1109-88dup
XM_011544132.1:c.881-88dup XP_011542434.1:n.881-88dup
XM_011544132.2:c.881-88dup XP_011542434.1:n.881-88dup
NM_000143.4:c.1109-88dup MANE Select NP_000134.2:n.1109-88dup