Canonical Allele Identifier: CA1229578797
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504094A= , CM000663.2:g.241504094A= GRCh38
NC_000001.10:g.241667394A= , CM000663.1:g.241667394A= GRCh37
NC_000001.9:g.239734017A= NCBI36
NG_012338.1:g.20661T= , LRG_504:g.20661T=

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1559T=
ENST00000682162.1:c.1085T= ENSP00000508203.1:n.1085T=
ENST00000682567.1:n.1133T=
ENST00000683521.1:c.1056T= ENSP00000506864.1:p.Gly352=
ENST00000684161.1:n.2271T=
ENST00000684483.1:c.*452T= ENSP00000507894.1:n.*452T=
ENST00000366560.4:c.1056T= MANE Select ENSP00000355518.4:p.Gly352=
ENST00000366560.3:c.1056T= ENSP00000355518.3:p.Gly352=
NM_000143.3:c.1056T= , LRG_504t1:c.1056T= NP_000134.2:p.Gly352=
XM_011544132.1:c.828T= XP_011542434.1:p.Gly276=
XM_011544132.2:c.828T= XP_011542434.1:p.Gly276=
NM_000143.4:c.1056T= MANE Select NP_000134.2:p.Gly352=