Canonical Allele Identifier: CA1229577315
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241500575G= , CM000663.2:g.241500575G= GRCh38
NC_000001.10:g.241663875G= , CM000663.1:g.241663875G= GRCh37
NC_000001.9:g.239730498G= NCBI36
NG_012338.1:g.24180C= , LRG_504:g.24180C=

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1755C=
ENST00000682162.1:c.1281C= ENSP00000508203.1:n.1281C=
ENST00000682567.1:n.4652C=
ENST00000683521.1:c.1252C= ENSP00000506864.1:p.His418=
ENST00000684161.1:n.2467C=
ENST00000684483.1:c.*648C= ENSP00000507894.1:n.*648C=
ENST00000366560.4:c.1252C= MANE Select ENSP00000355518.4:p.His418=
ENST00000366560.3:c.1252C= ENSP00000355518.3:p.His418=
NM_000143.3:c.1252C= , LRG_504t1:c.1252C= NP_000134.2:p.His418=
XM_011544132.1:c.1024C= XP_011542434.1:p.His342=
XM_011544132.2:c.1024C= XP_011542434.1:p.His342=
NM_000143.4:c.1252C= MANE Select NP_000134.2:p.His418=