Canonical Allele Identifier: CA1229580621
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508619G= , CM000663.2:g.241508619G= GRCh38
NC_000001.10:g.241671919G= , CM000663.1:g.241671919G= GRCh37
NC_000001.9:g.239738542G= NCBI36
NG_012338.1:g.16136C= , LRG_504:g.16136C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1225C=
ENST00000682162.1:c.751C= ENSP00000508203.1:n.751C=
ENST00000682567.1:n.799C=
ENST00000683521.1:c.722C= ENSP00000506864.1:p.Pro241=
ENST00000684161.1:n.1937C=
ENST00000684483.1:c.*118C= ENSP00000507894.1:n.*118C=
ENST00000366560.4:c.722C= MANE Select ENSP00000355518.4:p.Pro241=
ENST00000366560.3:c.722C= ENSP00000355518.3:p.Pro241=
NM_000143.3:c.722C= , LRG_504t1:c.722C= NP_000134.2:p.Pro241=
XM_011544132.1:c.494C= XP_011542434.1:p.Pro165=
XM_011544132.2:c.494C= XP_011542434.1:p.Pro165=
NM_000143.4:c.722C= MANE Select NP_000134.2:p.Pro241=