Canonical Allele Identifier: CA1229578174
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502567T= , CM000663.2:g.241502567T= GRCh38
NC_000001.10:g.241665867T= , CM000663.1:g.241665867T= GRCh37
NC_000001.9:g.239732490T= NCBI36
NG_012338.1:g.22188A= , LRG_504:g.22188A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1615A=
ENST00000682162.1:c.1141A= ENSP00000508203.1:n.1141A=
ENST00000682567.1:n.2660A=
ENST00000683521.1:c.1112A= ENSP00000506864.1:p.Lys371=
ENST00000684161.1:n.2327A=
ENST00000684483.1:c.*508A= ENSP00000507894.1:n.*508A=
ENST00000366560.4:c.1112A= MANE Select ENSP00000355518.4:p.Lys371=
ENST00000366560.3:c.1112A= ENSP00000355518.3:p.Lys371=
NM_000143.3:c.1112A= , LRG_504t1:c.1112A= NP_000134.2:p.Lys371=
XM_011544132.1:c.884A= XP_011542434.1:p.Lys295=
XM_011544132.2:c.884A= XP_011542434.1:p.Lys295=
NM_000143.4:c.1112A= MANE Select NP_000134.2:p.Lys371=