Canonical Allele Identifier: CA1143496681
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504140T= , CM000663.2:g.241504140T= GRCh38
NC_000001.10:g.241667440T= , CM000663.1:g.241667440T= GRCh37
NC_000001.9:g.239734063T= NCBI36
NG_012338.1:g.20615A= , LRG_504:g.20615A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1513A=
ENST00000682162.1:c.1039A= ENSP00000508203.1:n.1039A=
ENST00000682567.1:n.1087A=
ENST00000683521.1:c.1010A= ENSP00000506864.1:p.Lys337=
ENST00000684161.1:n.2225A=
ENST00000684483.1:c.*406A= ENSP00000507894.1:n.*406A=
ENST00000366560.4:c.1010A= MANE Select ENSP00000355518.4:p.Lys337=
ENST00000366560.3:c.1010A= ENSP00000355518.3:p.Lys337=
NM_000143.3:c.1010A= , LRG_504t1:c.1010A= NP_000134.2:p.Lys337=
XM_011544132.1:c.782A= XP_011542434.1:p.Lys261=
XM_011544132.2:c.782A= XP_011542434.1:p.Lys261=
NM_000143.4:c.1010A= MANE Select NP_000134.2:p.Lys337=