Canonical Allele Identifier: CA1229578136
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502490C= , CM000663.2:g.241502490C= GRCh38
NC_000001.10:g.241665790C= , CM000663.1:g.241665790C= GRCh37
NC_000001.9:g.239732413C= NCBI36
NG_012338.1:g.22265G= , LRG_504:g.22265G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1692G=
ENST00000682162.1:c.1218G= ENSP00000508203.1:n.1218G=
ENST00000682567.1:n.2737G=
ENST00000683521.1:c.1189G= ENSP00000506864.1:p.Gly397=
ENST00000684161.1:n.2404G=
ENST00000684483.1:c.*585G= ENSP00000507894.1:n.*585G=
ENST00000366560.4:c.1189G= MANE Select ENSP00000355518.4:p.Gly397=
ENST00000366560.3:c.1189G= ENSP00000355518.3:p.Gly397=
NM_000143.3:c.1189G= , LRG_504t1:c.1189G= NP_000134.2:p.Gly397=
XM_011544132.1:c.961G= XP_011542434.1:p.Gly321=
XM_011544132.2:c.961G= XP_011542434.1:p.Gly321=
NM_000143.4:c.1189G= MANE Select NP_000134.2:p.Gly397=