Canonical Allele Identifier: CA345439286
Gene: FH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508676G>T , CM000663.2:g.241508676G>T GRCh38
NC_000001.10:g.241671976G>T , CM000663.1:g.241671976G>T GRCh37
NC_000001.9:g.239738599G>T NCBI36
NG_012338.1:g.16079C>A , LRG_504:g.16079C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1168C>A
ENST00000682162.1:c.694C>A ENSP00000508203.1:n.694C>A
ENST00000682567.1:n.742C>A
ENST00000683521.1:c.665C>A ENSP00000506864.1:p.Ser222Tyr
ENST00000684161.1:n.1880C>A
ENST00000684483.1:c.*61C>A ENSP00000507894.1:n.*61C>A
ENST00000366560.4:c.665C>A MANE Select ENSP00000355518.4:p.Ser222Tyr
ENST00000366560.3:c.665C>A ENSP00000355518.3:p.Ser222Tyr
NM_000143.3:c.665C>A , LRG_504t1:c.665C>A NP_000134.2:p.Ser222Tyr
XM_011544132.1:c.437C>A XP_011542434.1:p.Ser146Tyr
XM_011544132.2:c.437C>A XP_011542434.1:p.Ser146Tyr
NM_000143.4:c.665C>A MANE Select NP_000134.2:p.Ser222Tyr