Canonical Allele Identifier: CA1143727101
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517242G= , CM000663.2:g.241517242G= GRCh38
NC_000001.10:g.241680542G= , CM000663.1:g.241680542G= GRCh37
NC_000001.9:g.239747165G= NCBI36
NG_012338.1:g.7513C= , LRG_504:g.7513C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.710C=
ENST00000682162.1:c.236C= ENSP00000508203.1:n.236C=
ENST00000682567.1:n.284C=
ENST00000683521.1:c.207C= ENSP00000506864.1:p.Gly69=
ENST00000684483.1:c.207C= ENSP00000507894.1:p.Gly69=
ENST00000366560.4:c.207C= MANE Select ENSP00000355518.4:p.Gly69=
ENST00000366560.3:c.207C= ENSP00000355518.3:p.Gly69=
ENST00000493477.1:n.320C=
NM_000143.3:c.207C= , LRG_504t1:c.207C= NP_000134.2:p.Gly69=
XM_011544132.1:c.-22C= XP_011542434.1:n.-22C=
XM_011544132.2:c.-22C= XP_011542434.1:n.-22C=
NM_000143.4:c.207C= MANE Select NP_000134.2:p.Gly69=