Canonical Allele Identifier: CA1229580669
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508707G= , CM000663.2:g.241508707G= GRCh38
NC_000001.10:g.241672007G= , CM000663.1:g.241672007G= GRCh37
NC_000001.9:g.239738630G= NCBI36
NG_012338.1:g.16048C= , LRG_504:g.16048C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1137C=
ENST00000682162.1:c.663C= ENSP00000508203.1:n.663C=
ENST00000682567.1:n.711C=
ENST00000683521.1:c.634C= ENSP00000506864.1:p.Gln212=
ENST00000684161.1:n.1849C=
ENST00000684483.1:c.*30C= ENSP00000507894.1:n.*30C=
ENST00000366560.4:c.634C= MANE Select ENSP00000355518.4:p.Gln212=
ENST00000366560.3:c.634C= ENSP00000355518.3:p.Gln212=
NM_000143.3:c.634C= , LRG_504t1:c.634C= NP_000134.2:p.Gln212=
XM_011544132.1:c.406C= XP_011542434.1:p.Gln136=
XM_011544132.2:c.406C= XP_011542434.1:p.Gln136=
NM_000143.4:c.634C= MANE Select NP_000134.2:p.Gln212=