Canonical Allele Identifier: CA1229579615
Community Standard Title: NM_000143.4(FH):c.823G= (p.Gly275=)
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241506084C= , CM000663.2:g.241506084C= GRCh38
NC_000001.10:g.241669384C= , CM000663.1:g.241669384C= GRCh37
NC_000001.9:g.239736007C= NCBI36
NG_012338.1:g.18671G= , LRG_504:g.18671G=

Transcript Alleles

HGVS Amino-acid Change
NM_000143.4:c.823G= MANE Select NP_000134.2:p.Gly275=
ENST00000366560.4:c.823G= MANE Select ENSP00000355518.4:p.Gly275=
NM_000143.3:c.823G= , LRG_504t1:c.823G= NP_000134.2:p.Gly275=
ENST00000366560.3:c.823G= ENSP00000355518.3:p.Gly275=
ENST00000493477.2:n.1326G=
ENST00000682162.1:c.852G= ENSP00000508203.1:n.852G=
ENST00000682567.1:n.900G=
ENST00000683521.1:c.823G= ENSP00000506864.1:p.Gly275=
ENST00000684161.1:n.2038G=
ENST00000684483.1:c.*219G= ENSP00000507894.1:n.*219G=
XM_011544132.1:c.595G= XP_011542434.1:p.Gly199=
XM_011544132.2:c.595G= XP_011542434.1:p.Gly199=