Canonical Allele Identifier: CA1229578870
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504255A= , CM000663.2:g.241504255A= GRCh38
NC_000001.10:g.241667555A= , CM000663.1:g.241667555A= GRCh37
NC_000001.9:g.239734178A= NCBI36
NG_012338.1:g.20500T= , LRG_504:g.20500T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1408-10T=
ENST00000682162.1:c.934-10T= ENSP00000508203.1:n.934-10T=
ENST00000682567.1:n.982-10T=
ENST00000683521.1:c.905-10T= ENSP00000506864.1:n.905-10T=
ENST00000684161.1:n.2120-10T=
ENST00000684483.1:c.*301-10T= ENSP00000507894.1:n.*301-10T=
ENST00000366560.4:c.905-10T= MANE Select ENSP00000355518.4:n.905-10T=
ENST00000366560.3:c.905-10T= ENSP00000355518.3:n.905-10T=
NM_000143.3:c.905-10T= , LRG_504t1:c.905-10T= NP_000134.2:n.905-10T=
XM_011544132.1:c.677-10T= XP_011542434.1:n.677-10T=
XM_011544132.2:c.677-10T= XP_011542434.1:n.677-10T=
NM_000143.4:c.905-10T= MANE Select NP_000134.2:n.905-10T=