Canonical Allele Identifier: CA1229579624
Community Standard Title: NM_000143.4(FH):c.808T= (p.Tyr270=)
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241506099A= , CM000663.2:g.241506099A= GRCh38
NC_000001.10:g.241669399A= , CM000663.1:g.241669399A= GRCh37
NC_000001.9:g.239736022A= NCBI36
NG_012338.1:g.18656T= , LRG_504:g.18656T=

Transcript Alleles

HGVS Amino-acid Change
NM_000143.4:c.808T= MANE Select NP_000134.2:p.Tyr270=
ENST00000366560.4:c.808T= MANE Select ENSP00000355518.4:p.Tyr270=
NM_000143.3:c.808T= , LRG_504t1:c.808T= NP_000134.2:p.Tyr270=
ENST00000366560.3:c.808T= ENSP00000355518.3:p.Tyr270=
ENST00000493477.2:n.1311T=
ENST00000682162.1:c.837T= ENSP00000508203.1:n.837T=
ENST00000682567.1:n.885T=
ENST00000683521.1:c.808T= ENSP00000506864.1:p.Tyr270=
ENST00000684161.1:n.2023T=
ENST00000684483.1:c.*204T= ENSP00000507894.1:n.*204T=
XM_011544132.1:c.580T= XP_011542434.1:p.Tyr194=
XM_011544132.2:c.580T= XP_011542434.1:p.Tyr194=