Canonical Allele Identifier: CA1141581488
Community Standard Title: NM_000143.4(FH):c.301C= (p.Arg101=)
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241513680G= , CM000663.2:g.241513680G= GRCh38
NC_000001.10:g.241676980G= , CM000663.1:g.241676980G= GRCh37
NC_000001.9:g.239743603G= NCBI36
NG_012338.1:g.11075C= , LRG_504:g.11075C=

Transcript Alleles

HGVS Amino-acid Change
NM_000143.4:c.301C= MANE Select NP_000134.2:p.Arg101=
ENST00000366560.4:c.301C= MANE Select ENSP00000355518.4:p.Arg101=
NM_000143.3:c.301C= , LRG_504t1:c.301C= NP_000134.2:p.Arg101=
ENST00000366560.3:c.301C= ENSP00000355518.3:p.Arg101=
ENST00000493477.1:n.414C=
ENST00000493477.2:n.804C=
ENST00000682162.1:c.330C= ENSP00000508203.1:n.330C=
ENST00000682567.1:n.378C=
ENST00000683521.1:c.301C= ENSP00000506864.1:p.Arg101=
ENST00000684483.1:c.301C= ENSP00000507894.1:p.Arg101=
XM_011544132.1:c.73C= XP_011542434.1:p.Arg25=
XM_011544132.2:c.73C= XP_011542434.1:p.Arg25=