Canonical Allele Identifier: CA1229582052
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512053T= , CM000663.2:g.241512053T= GRCh38
NC_000001.10:g.241675353T= , CM000663.1:g.241675353T= GRCh37
NC_000001.9:g.239741976T= NCBI36
NG_012338.1:g.12702A= , LRG_504:g.12702A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.972A=
ENST00000682162.1:c.498A= ENSP00000508203.1:n.498A=
ENST00000682567.1:n.546A=
ENST00000683521.1:c.469A= ENSP00000506864.1:p.Ile157=
ENST00000684483.1:c.469A= ENSP00000507894.1:p.Ile157=
ENST00000366560.4:c.469A= MANE Select ENSP00000355518.4:p.Ile157=
ENST00000366560.3:c.469A= ENSP00000355518.3:p.Ile157=
ENST00000497042.1:n.165A=
NM_000143.3:c.469A= , LRG_504t1:c.469A= NP_000134.2:p.Ile157=
XM_011544132.1:c.241A= XP_011542434.1:p.Ile81=
XM_011544132.2:c.241A= XP_011542434.1:p.Ile81=
NM_000143.4:c.469A= MANE Select NP_000134.2:p.Ile157=