Canonical Allele Identifier: CA1229577226
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241500368G= , CM000663.2:g.241500368G= GRCh38
NC_000001.10:g.241663668G= , CM000663.1:g.241663668G= GRCh37
NC_000001.9:g.239730291G= NCBI36
NG_012338.1:g.24387C= , LRG_504:g.24387C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1893+69C=
ENST00000682162.1:c.1419+69C= ENSP00000508203.1:n.1419+69C=
ENST00000682567.1:n.4790+69C=
ENST00000683521.1:c.*16C= ENSP00000506864.1:n.*16C=
ENST00000684161.1:n.2605+69C=
ENST00000684483.1:c.*786+69C= ENSP00000507894.1:n.*786+69C=
ENST00000366560.4:c.1390+69C= MANE Select ENSP00000355518.4:n.1390+69C=
ENST00000366560.3:c.1390+69C= ENSP00000355518.3:n.1390+69C=
NM_000143.3:c.1390+69C= , LRG_504t1:c.1390+69C= NP_000134.2:n.1390+69C=
XM_011544132.1:c.1162+69C= XP_011542434.1:n.1162+69C=
XM_011544132.2:c.1162+69C= XP_011542434.1:n.1162+69C=
NM_000143.4:c.1390+69C= MANE Select NP_000134.2:n.1390+69C=