Canonical Allele Identifier: CA1142140060
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504168T= , CM000663.2:g.241504168T= GRCh38
NC_000001.10:g.241667468T= , CM000663.1:g.241667468T= GRCh37
NC_000001.9:g.239734091T= NCBI36
NG_012338.1:g.20587A= , LRG_504:g.20587A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1485A=
ENST00000682162.1:c.1011A= ENSP00000508203.1:n.1011A=
ENST00000682567.1:n.1059A=
ENST00000683521.1:c.982A= ENSP00000506864.1:p.Met328=
ENST00000684161.1:n.2197A=
ENST00000684483.1:c.*378A= ENSP00000507894.1:n.*378A=
ENST00000366560.4:c.982A= MANE Select ENSP00000355518.4:p.Met328=
ENST00000366560.3:c.982A= ENSP00000355518.3:p.Met328=
NM_000143.3:c.982A= , LRG_504t1:c.982A= NP_000134.2:p.Met328=
XM_011544132.1:c.754A= XP_011542434.1:p.Met252=
XM_011544132.2:c.754A= XP_011542434.1:p.Met252=
NM_000143.4:c.982A= MANE Select NP_000134.2:p.Met328=