Canonical Allele Identifier: CA1229582700
Community Standard Title: NM_000143.4(FH):c.322C= (p.Gln108=)
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241513659G= , CM000663.2:g.241513659G= GRCh38
NC_000001.10:g.241676959G= , CM000663.1:g.241676959G= GRCh37
NC_000001.9:g.239743582G= NCBI36
NG_012338.1:g.11096C= , LRG_504:g.11096C=

Transcript Alleles

HGVS Amino-acid Change
NM_000143.4:c.322C= MANE Select NP_000134.2:p.Gln108=
ENST00000366560.4:c.322C= MANE Select ENSP00000355518.4:p.Gln108=
NM_000143.3:c.322C= , LRG_504t1:c.322C= NP_000134.2:p.Gln108=
ENST00000366560.3:c.322C= ENSP00000355518.3:p.Gln108=
ENST00000493477.2:n.825C=
ENST00000497042.1:n.18C=
ENST00000682162.1:c.351C= ENSP00000508203.1:n.351C=
ENST00000682567.1:n.399C=
ENST00000683521.1:c.322C= ENSP00000506864.1:p.Gln108=
ENST00000684483.1:c.322C= ENSP00000507894.1:p.Gln108=
XM_011544132.1:c.94C= XP_011542434.1:p.Gln32=
XM_011544132.2:c.94C= XP_011542434.1:p.Gln32=