Canonical Allele Identifier: CA1148887247
Community Standard Title: NM_000143.4(FH):c.1041T= (p.Ser347=)
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504109A= , CM000663.2:g.241504109A= GRCh38
NC_000001.10:g.241667409A= , CM000663.1:g.241667409A= GRCh37
NC_000001.9:g.239734032A= NCBI36
NG_012338.1:g.20646T= , LRG_504:g.20646T=

Transcript Alleles

HGVS Amino-acid Change
NM_000143.4:c.1041T= MANE Select NP_000134.2:p.Ser347=
ENST00000366560.4:c.1041T= MANE Select ENSP00000355518.4:p.Ser347=
NM_000143.3:c.1041T= , LRG_504t1:c.1041T= NP_000134.2:p.Ser347=
ENST00000366560.3:c.1041T= ENSP00000355518.3:p.Ser347=
ENST00000493477.2:n.1544T=
ENST00000682162.1:c.1070T= ENSP00000508203.1:n.1070T=
ENST00000682567.1:n.1118T=
ENST00000683521.1:c.1041T= ENSP00000506864.1:p.Ser347=
ENST00000684161.1:n.2256T=
ENST00000684483.1:c.*437T= ENSP00000507894.1:n.*437T=
XM_011544132.1:c.813T= XP_011542434.1:p.Ser271=
XM_011544132.2:c.813T= XP_011542434.1:p.Ser271=