Canonical Allele Identifier: CA1229578803
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504105G= , CM000663.2:g.241504105G= GRCh38
NC_000001.10:g.241667405G= , CM000663.1:g.241667405G= GRCh37
NC_000001.9:g.239734028G= NCBI36
NG_012338.1:g.20650C= , LRG_504:g.20650C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1548C=
ENST00000682162.1:c.1074C= ENSP00000508203.1:n.1074C=
ENST00000682567.1:n.1122C=
ENST00000683521.1:c.1045C= ENSP00000506864.1:p.Pro349=
ENST00000684161.1:n.2260C=
ENST00000684483.1:c.*441C= ENSP00000507894.1:n.*441C=
ENST00000366560.4:c.1045C= MANE Select ENSP00000355518.4:p.Pro349=
ENST00000366560.3:c.1045C= ENSP00000355518.3:p.Pro349=
NM_000143.3:c.1045C= , LRG_504t1:c.1045C= NP_000134.2:p.Pro349=
XM_011544132.1:c.817C= XP_011542434.1:p.Pro273=
XM_011544132.2:c.817C= XP_011542434.1:p.Pro273=
NM_000143.4:c.1045C= MANE Select NP_000134.2:p.Pro349=