Canonical Allele Identifier: CA1229577216
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241500355C= , CM000663.2:g.241500355C= GRCh38
NC_000001.10:g.241663655C= , CM000663.1:g.241663655C= GRCh37
NC_000001.9:g.239730278C= NCBI36
NG_012338.1:g.24400G= , LRG_504:g.24400G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1893+82G=
ENST00000682162.1:c.1419+82G= ENSP00000508203.1:n.1419+82G=
ENST00000682567.1:n.4790+82G=
ENST00000683521.1:c.*29G= ENSP00000506864.1:n.*29G=
ENST00000684161.1:n.2605+82G=
ENST00000684483.1:c.*786+82G= ENSP00000507894.1:n.*786+82G=
ENST00000366560.4:c.1390+82G= MANE Select ENSP00000355518.4:n.1390+82G=
ENST00000366560.3:c.1390+82G= ENSP00000355518.3:n.1390+82G=
NM_000143.3:c.1390+82G= , LRG_504t1:c.1390+82G= NP_000134.2:n.1390+82G=
XM_011544132.1:c.1162+82G= XP_011542434.1:n.1162+82G=
XM_011544132.2:c.1162+82G= XP_011542434.1:n.1162+82G=
NM_000143.4:c.1390+82G= MANE Select NP_000134.2:n.1390+82G=