Canonical Allele Identifier: CA1229578185
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502595A= , CM000663.2:g.241502595A= GRCh38
NC_000001.10:g.241665895A= , CM000663.1:g.241665895A= GRCh37
NC_000001.9:g.239732518A= NCBI36
NG_012338.1:g.22160T= , LRG_504:g.22160T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1612-25T=
ENST00000682162.1:c.1138-25T= ENSP00000508203.1:n.1138-25T=
ENST00000682567.1:n.2632T=
ENST00000683521.1:c.1109-25T= ENSP00000506864.1:n.1109-25T=
ENST00000684161.1:n.2324-25T=
ENST00000684483.1:c.*505-25T= ENSP00000507894.1:n.*505-25T=
ENST00000366560.4:c.1109-25T= MANE Select ENSP00000355518.4:n.1109-25T=
ENST00000366560.3:c.1109-25T= ENSP00000355518.3:n.1109-25T=
NM_000143.3:c.1109-25T= , LRG_504t1:c.1109-25T= NP_000134.2:n.1109-25T=
XM_011544132.1:c.881-25T= XP_011542434.1:n.881-25T=
XM_011544132.2:c.881-25T= XP_011542434.1:n.881-25T=
NM_000143.4:c.1109-25T= MANE Select NP_000134.2:n.1109-25T=