Canonical Allele Identifier: CA1143894126
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512045A= , CM000663.2:g.241512045A= GRCh38
NC_000001.10:g.241675345A= , CM000663.1:g.241675345A= GRCh37
NC_000001.9:g.239741968A= NCBI36
NG_012338.1:g.12710T= , LRG_504:g.12710T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.980T=
ENST00000682162.1:c.506T= ENSP00000508203.1:n.506T=
ENST00000682567.1:n.554T=
ENST00000683521.1:c.477T= ENSP00000506864.1:p.Asn159=
ENST00000684483.1:c.477T= ENSP00000507894.1:p.Asn159=
ENST00000366560.4:c.477T= MANE Select ENSP00000355518.4:p.Asn159=
ENST00000366560.3:c.477T= ENSP00000355518.3:p.Asn159=
ENST00000497042.1:n.173T=
NM_000143.3:c.477T= , LRG_504t1:c.477T= NP_000134.2:p.Asn159=
XM_011544132.1:c.249T= XP_011542434.1:p.Asn83=
XM_011544132.2:c.249T= XP_011542434.1:p.Asn83=
NM_000143.4:c.477T= MANE Select NP_000134.2:p.Asn159=