Canonical Allele Identifier: CA1229580652
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508669C= , CM000663.2:g.241508669C= GRCh38
NC_000001.10:g.241671969C= , CM000663.1:g.241671969C= GRCh37
NC_000001.9:g.239738592C= NCBI36
NG_012338.1:g.16086G= , LRG_504:g.16086G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1175G=
ENST00000682162.1:c.701G= ENSP00000508203.1:n.701G=
ENST00000682567.1:n.749G=
ENST00000683521.1:c.672G= ENSP00000506864.1:p.Glu224=
ENST00000684161.1:n.1887G=
ENST00000684483.1:c.*68G= ENSP00000507894.1:n.*68G=
ENST00000366560.4:c.672G= MANE Select ENSP00000355518.4:p.Glu224=
ENST00000366560.3:c.672G= ENSP00000355518.3:p.Glu224=
NM_000143.3:c.672G= , LRG_504t1:c.672G= NP_000134.2:p.Glu224=
XM_011544132.1:c.444G= XP_011542434.1:p.Glu148=
XM_011544132.2:c.444G= XP_011542434.1:p.Glu148=
NM_000143.4:c.672G= MANE Select NP_000134.2:p.Glu224=