Canonical Allele Identifier: CA1229584139
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517303G= , CM000663.2:g.241517303G= GRCh38
NC_000001.10:g.241680603G= , CM000663.1:g.241680603G= GRCh37
NC_000001.9:g.239747226G= NCBI36
NG_012338.1:g.7452C= , LRG_504:g.7452C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.649C=
ENST00000682162.1:c.175C= ENSP00000508203.1:p.Pro59=
ENST00000682567.1:n.223C=
ENST00000683521.1:c.146C= ENSP00000506864.1:p.Ser49=
ENST00000684483.1:c.146C= ENSP00000507894.1:p.Ser49=
ENST00000366560.4:c.146C= MANE Select ENSP00000355518.4:p.Ser49=
ENST00000366560.3:c.146C= ENSP00000355518.3:p.Ser49=
ENST00000493477.1:n.259C=
NM_000143.3:c.146C= , LRG_504t1:c.146C= NP_000134.2:p.Ser49=
XM_011544132.1:c.-83C= XP_011542434.1:n.-83C=
XM_011544132.2:c.-83C= XP_011542434.1:n.-83C=
NM_000143.4:c.146C= MANE Select NP_000134.2:p.Ser49=