Canonical Allele Identifier: CA1144233431
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502479A= , CM000663.2:g.241502479A= GRCh38
NC_000001.10:g.241665779A= , CM000663.1:g.241665779A= GRCh37
NC_000001.9:g.239732402A= NCBI36
NG_012338.1:g.22276T= , LRG_504:g.22276T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1703T=
ENST00000682162.1:c.1229T= ENSP00000508203.1:n.1229T=
ENST00000682567.1:n.2748T=
ENST00000683521.1:c.1200T= ENSP00000506864.1:p.Asn400=
ENST00000684161.1:n.2415T=
ENST00000684483.1:c.*596T= ENSP00000507894.1:n.*596T=
ENST00000366560.4:c.1200T= MANE Select ENSP00000355518.4:p.Asn400=
ENST00000366560.3:c.1200T= ENSP00000355518.3:p.Asn400=
NM_000143.3:c.1200T= , LRG_504t1:c.1200T= NP_000134.2:p.Asn400=
XM_011544132.1:c.972T= XP_011542434.1:p.Asn324=
XM_011544132.2:c.972T= XP_011542434.1:p.Asn324=
NM_000143.4:c.1200T= MANE Select NP_000134.2:p.Asn400=