Canonical Allele Identifier: CA1144233436
Community Standard Title: NM_000143.4(FH):c.952C= (p.His318=)
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504198G= , CM000663.2:g.241504198G= GRCh38
NC_000001.10:g.241667498G= , CM000663.1:g.241667498G= GRCh37
NC_000001.9:g.239734121G= NCBI36
NG_012338.1:g.20557C= , LRG_504:g.20557C=

Transcript Alleles

HGVS Amino-acid Change
NM_000143.4:c.952C= MANE Select NP_000134.2:p.His318=
ENST00000366560.4:c.952C= MANE Select ENSP00000355518.4:p.His318=
NM_000143.3:c.952C= , LRG_504t1:c.952C= NP_000134.2:p.His318=
ENST00000366560.3:c.952C= ENSP00000355518.3:p.His318=
ENST00000493477.2:n.1455C=
ENST00000682162.1:c.981C= ENSP00000508203.1:n.981C=
ENST00000682567.1:n.1029C=
ENST00000683521.1:c.952C= ENSP00000506864.1:p.His318=
ENST00000684161.1:n.2167C=
ENST00000684483.1:c.*348C= ENSP00000507894.1:n.*348C=
XM_011544132.1:c.724C= XP_011542434.1:p.His242=
XM_011544132.2:c.724C= XP_011542434.1:p.His242=