Canonical Allele Identifier: CA1229578146
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502507T= , CM000663.2:g.241502507T= GRCh38
NC_000001.10:g.241665807T= , CM000663.1:g.241665807T= GRCh37
NC_000001.9:g.239732430T= NCBI36
NG_012338.1:g.22248A= , LRG_504:g.22248A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1675A=
ENST00000682162.1:c.1201A= ENSP00000508203.1:n.1201A=
ENST00000682567.1:n.2720A=
ENST00000683521.1:c.1172A= ENSP00000506864.1:p.His391=
ENST00000684161.1:n.2387A=
ENST00000684483.1:c.*568A= ENSP00000507894.1:n.*568A=
ENST00000366560.4:c.1172A= MANE Select ENSP00000355518.4:p.His391=
ENST00000366560.3:c.1172A= ENSP00000355518.3:p.His391=
NM_000143.3:c.1172A= , LRG_504t1:c.1172A= NP_000134.2:p.His391=
XM_011544132.1:c.944A= XP_011542434.1:p.His315=
XM_011544132.2:c.944A= XP_011542434.1:p.His315=
NM_000143.4:c.1172A= MANE Select NP_000134.2:p.His391=