Canonical Allele Identifier: CA1144233435
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504130A= , CM000663.2:g.241504130A= GRCh38
NC_000001.10:g.241667430A= , CM000663.1:g.241667430A= GRCh37
NC_000001.9:g.239734053A= NCBI36
NG_012338.1:g.20625T= , LRG_504:g.20625T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1523T=
ENST00000682162.1:c.1049T= ENSP00000508203.1:n.1049T=
ENST00000682567.1:n.1097T=
ENST00000683521.1:c.1020T= ENSP00000506864.1:p.Asn340=
ENST00000684161.1:n.2235T=
ENST00000684483.1:c.*416T= ENSP00000507894.1:n.*416T=
ENST00000366560.4:c.1020T= MANE Select ENSP00000355518.4:p.Asn340=
ENST00000366560.3:c.1020T= ENSP00000355518.3:p.Asn340=
NM_000143.3:c.1020T= , LRG_504t1:c.1020T= NP_000134.2:p.Asn340=
XM_011544132.1:c.792T= XP_011542434.1:p.Asn264=
XM_011544132.2:c.792T= XP_011542434.1:p.Asn264=
NM_000143.4:c.1020T= MANE Select NP_000134.2:p.Asn340=