Canonical Allele Identifier: CA1143524057
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512054G= , CM000663.2:g.241512054G= GRCh38
NC_000001.10:g.241675354G= , CM000663.1:g.241675354G= GRCh37
NC_000001.9:g.239741977G= NCBI36
NG_012338.1:g.12701C= , LRG_504:g.12701C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.971C=
ENST00000682162.1:c.497C= ENSP00000508203.1:n.497C=
ENST00000682567.1:n.545C=
ENST00000683521.1:c.468C= ENSP00000506864.1:p.Val156=
ENST00000684483.1:c.468C= ENSP00000507894.1:p.Val156=
ENST00000366560.4:c.468C= MANE Select ENSP00000355518.4:p.Val156=
ENST00000366560.3:c.468C= ENSP00000355518.3:p.Val156=
ENST00000497042.1:n.164C=
NM_000143.3:c.468C= , LRG_504t1:c.468C= NP_000134.2:p.Val156=
XM_011544132.1:c.240C= XP_011542434.1:p.Val80=
XM_011544132.2:c.240C= XP_011542434.1:p.Val80=
NM_000143.4:c.468C= MANE Select NP_000134.2:p.Val156=