Canonical Allele Identifier: CA345437259
Gene: FH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502454T>C , CM000663.2:g.241502454T>C GRCh38
NC_000001.10:g.241665754T>C , CM000663.1:g.241665754T>C GRCh37
NC_000001.9:g.239732377T>C NCBI36
NG_012338.1:g.22301A>G , LRG_504:g.22301A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1728A>G
ENST00000682162.1:c.1254A>G ENSP00000508203.1:n.1254A>G
ENST00000682567.1:n.2773A>G
ENST00000683521.1:c.1225A>G ENSP00000506864.1:p.Lys409Glu
ENST00000684161.1:n.2440A>G
ENST00000684483.1:c.*621A>G ENSP00000507894.1:n.*621A>G
ENST00000366560.4:c.1225A>G MANE Select ENSP00000355518.4:p.Lys409Glu
ENST00000366560.3:c.1225A>G ENSP00000355518.3:p.Lys409Glu
NM_000143.3:c.1225A>G , LRG_504t1:c.1225A>G NP_000134.2:p.Lys409Glu
XM_011544132.1:c.997A>G XP_011542434.1:p.Lys333Glu
XM_011544132.2:c.997A>G XP_011542434.1:p.Lys333Glu
NM_000143.4:c.1225A>G MANE Select NP_000134.2:p.Lys409Glu