Canonical Allele Identifier: CA1229580646
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508663T= , CM000663.2:g.241508663T= GRCh38
NC_000001.10:g.241671963T= , CM000663.1:g.241671963T= GRCh37
NC_000001.9:g.239738586T= NCBI36
NG_012338.1:g.16092A= , LRG_504:g.16092A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1181A=
ENST00000682162.1:c.707A= ENSP00000508203.1:n.707A=
ENST00000682567.1:n.755A=
ENST00000683521.1:c.678A= ENSP00000506864.1:p.Ala226=
ENST00000684161.1:n.1893A=
ENST00000684483.1:c.*74A= ENSP00000507894.1:n.*74A=
ENST00000366560.4:c.678A= MANE Select ENSP00000355518.4:p.Ala226=
ENST00000366560.3:c.678A= ENSP00000355518.3:p.Ala226=
NM_000143.3:c.678A= , LRG_504t1:c.678A= NP_000134.2:p.Ala226=
XM_011544132.1:c.450A= XP_011542434.1:p.Ala150=
XM_011544132.2:c.450A= XP_011542434.1:p.Ala150=
NM_000143.4:c.678A= MANE Select NP_000134.2:p.Ala226=