Canonical Allele Identifier: CA1229582197
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512400G= , CM000663.2:g.241512400G= GRCh38
NC_000001.10:g.241675700G= , CM000663.1:g.241675700G= GRCh37
NC_000001.9:g.239742323G= NCBI36
NG_012338.1:g.12355C= , LRG_504:g.12355C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.882-257C=
ENST00000682162.1:c.408-257C= ENSP00000508203.1:n.408-257C=
ENST00000682567.1:n.456-257C=
ENST00000683521.1:c.379-257C= ENSP00000506864.1:n.379-257C=
ENST00000684483.1:c.379-257C= ENSP00000507894.1:n.379-257C=
ENST00000366560.4:c.379-257C= MANE Select ENSP00000355518.4:n.379-257C=
ENST00000366560.3:c.379-257C= ENSP00000355518.3:n.379-257C=
ENST00000497042.1:n.75-257C=
NM_000143.3:c.379-257C= , LRG_504t1:c.379-257C= NP_000134.2:n.379-257C=
XM_011544132.1:c.151-257C= XP_011542434.1:n.151-257C=
XM_011544132.2:c.151-257C= XP_011542434.1:n.151-257C=
NM_000143.4:c.379-257C= MANE Select NP_000134.2:n.379-257C=