Canonical Allele Identifier: CA1141581483
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504123G= , CM000663.2:g.241504123G= GRCh38
NC_000001.10:g.241667423G= , CM000663.1:g.241667423G= GRCh37
NC_000001.9:g.239734046G= NCBI36
NG_012338.1:g.20632C= , LRG_504:g.20632C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1530C=
ENST00000682162.1:c.1056C= ENSP00000508203.1:n.1056C=
ENST00000682567.1:n.1104C=
ENST00000683521.1:c.1027C= ENSP00000506864.1:p.Arg343=
ENST00000684161.1:n.2242C=
ENST00000684483.1:c.*423C= ENSP00000507894.1:n.*423C=
ENST00000366560.4:c.1027C= MANE Select ENSP00000355518.4:p.Arg343=
ENST00000366560.3:c.1027C= ENSP00000355518.3:p.Arg343=
NM_000143.3:c.1027C= , LRG_504t1:c.1027C= NP_000134.2:p.Arg343=
XM_011544132.1:c.799C= XP_011542434.1:p.Arg267=
XM_011544132.2:c.799C= XP_011542434.1:p.Arg267=
NM_000143.4:c.1027C= MANE Select NP_000134.2:p.Arg343=