Canonical Allele Identifier: CA1229582057
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512065C= , CM000663.2:g.241512065C= GRCh38
NC_000001.10:g.241675365C= , CM000663.1:g.241675365C= GRCh37
NC_000001.9:g.239741988C= NCBI36
NG_012338.1:g.12690G= , LRG_504:g.12690G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.960G=
ENST00000682162.1:c.486G= ENSP00000508203.1:n.486G=
ENST00000682567.1:n.534G=
ENST00000683521.1:c.457G= ENSP00000506864.1:p.Val153=
ENST00000684483.1:c.457G= ENSP00000507894.1:p.Val153=
ENST00000366560.4:c.457G= MANE Select ENSP00000355518.4:p.Val153=
ENST00000366560.3:c.457G= ENSP00000355518.3:p.Val153=
ENST00000497042.1:n.153G=
NM_000143.3:c.457G= , LRG_504t1:c.457G= NP_000134.2:p.Val153=
XM_011544132.1:c.229G= XP_011542434.1:p.Val77=
XM_011544132.2:c.229G= XP_011542434.1:p.Val77=
NM_000143.4:c.457G= MANE Select NP_000134.2:p.Val153=