Canonical Allele Identifier: CA1229580613
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508605G= , CM000663.2:g.241508605G= GRCh38
NC_000001.10:g.241671905G= , CM000663.1:g.241671905G= GRCh37
NC_000001.9:g.239738528G= NCBI36
NG_012338.1:g.16150C= , LRG_504:g.16150C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1239C=
ENST00000682162.1:c.765C= ENSP00000508203.1:n.765C=
ENST00000682567.1:n.813C=
ENST00000683521.1:c.736C= ENSP00000506864.1:p.Gln246=
ENST00000684161.1:n.1951C=
ENST00000684483.1:c.*132C= ENSP00000507894.1:n.*132C=
ENST00000366560.4:c.736C= MANE Select ENSP00000355518.4:p.Gln246=
ENST00000366560.3:c.736C= ENSP00000355518.3:p.Gln246=
NM_000143.3:c.736C= , LRG_504t1:c.736C= NP_000134.2:p.Gln246=
XM_011544132.1:c.508C= XP_011542434.1:p.Gln170=
XM_011544132.2:c.508C= XP_011542434.1:p.Gln170=
NM_000143.4:c.736C= MANE Select NP_000134.2:p.Gln246=