Canonical Allele Identifier: CA1229580703
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508775T= , CM000663.2:g.241508775T= GRCh38
NC_000001.10:g.241672075T= , CM000663.1:g.241672075T= GRCh37
NC_000001.9:g.239738698T= NCBI36
NG_012338.1:g.15980A= , LRG_504:g.15980A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1069A=
ENST00000682162.1:c.595A= ENSP00000508203.1:n.595A=
ENST00000682567.1:n.643A=
ENST00000683521.1:c.566A= ENSP00000506864.1:p.Asp189=
ENST00000684161.1:n.1781A=
ENST00000684483.1:c.556-15A= ENSP00000507894.1:n.556-15A=
ENST00000366560.4:c.566A= MANE Select ENSP00000355518.4:p.Asp189=
ENST00000366560.3:c.566A= ENSP00000355518.3:p.Asp189=
NM_000143.3:c.566A= , LRG_504t1:c.566A= NP_000134.2:p.Asp189=
XM_011544132.1:c.338A= XP_011542434.1:p.Asp113=
XM_011544132.2:c.338A= XP_011542434.1:p.Asp113=
NM_000143.4:c.566A= MANE Select NP_000134.2:p.Asp189=