Canonical Allele Identifier: CA1144233434
Community Standard Title: NM_000143.4(FH):c.1126C= (p.Gln376=)
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502553G= , CM000663.2:g.241502553G= GRCh38
NC_000001.10:g.241665853G= , CM000663.1:g.241665853G= GRCh37
NC_000001.9:g.239732476G= NCBI36
NG_012338.1:g.22202C= , LRG_504:g.22202C=

Transcript Alleles

HGVS Amino-acid Change
NM_000143.4:c.1126C= MANE Select NP_000134.2:p.Gln376=
ENST00000366560.4:c.1126C= MANE Select ENSP00000355518.4:p.Gln376=
NM_000143.3:c.1126C= , LRG_504t1:c.1126C= NP_000134.2:p.Gln376=
ENST00000366560.3:c.1126C= ENSP00000355518.3:p.Gln376=
ENST00000493477.2:n.1629C=
ENST00000682162.1:c.1155C= ENSP00000508203.1:n.1155C=
ENST00000682567.1:n.2674C=
ENST00000683521.1:c.1126C= ENSP00000506864.1:p.Gln376=
ENST00000684161.1:n.2341C=
ENST00000684483.1:c.*522C= ENSP00000507894.1:n.*522C=
XM_011544132.1:c.898C= XP_011542434.1:p.Gln300=
XM_011544132.2:c.898C= XP_011542434.1:p.Gln300=