Canonical Allele Identifier: CA1229578838
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504194T= , CM000663.2:g.241504194T= GRCh38
NC_000001.10:g.241667494T= , CM000663.1:g.241667494T= GRCh37
NC_000001.9:g.239734117T= NCBI36
NG_012338.1:g.20561A= , LRG_504:g.20561A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1459A=
ENST00000682162.1:c.985A= ENSP00000508203.1:n.985A=
ENST00000682567.1:n.1033A=
ENST00000683521.1:c.956A= ENSP00000506864.1:p.Asp319=
ENST00000684161.1:n.2171A=
ENST00000684483.1:c.*352A= ENSP00000507894.1:n.*352A=
ENST00000366560.4:c.956A= MANE Select ENSP00000355518.4:p.Asp319=
ENST00000366560.3:c.956A= ENSP00000355518.3:p.Asp319=
NM_000143.3:c.956A= , LRG_504t1:c.956A= NP_000134.2:p.Asp319=
XM_011544132.1:c.728A= XP_011542434.1:p.Asp243=
XM_011544132.2:c.728A= XP_011542434.1:p.Asp243=
NM_000143.4:c.956A= MANE Select NP_000134.2:p.Asp319=