Canonical Allele Identifier: CA1229580523
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508403A= , CM000663.2:g.241508403A= GRCh38
NC_000001.10:g.241671703A= , CM000663.1:g.241671703A= GRCh37
NC_000001.9:g.239738326A= NCBI36
NG_012338.1:g.16352T= , LRG_504:g.16352T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1241+200T=
ENST00000682162.1:c.767+200T= ENSP00000508203.1:n.767+200T=
ENST00000682567.1:n.815+200T=
ENST00000683521.1:c.738+200T= ENSP00000506864.1:n.738+200T=
ENST00000684161.1:n.1953+200T=
ENST00000684483.1:c.*134+200T= ENSP00000507894.1:n.*134+200T=
ENST00000366560.4:c.738+200T= MANE Select ENSP00000355518.4:n.738+200T=
ENST00000366560.3:c.738+200T= ENSP00000355518.3:n.738+200T=
NM_000143.3:c.738+200T= , LRG_504t1:c.738+200T= NP_000134.2:n.738+200T=
XM_011544132.1:c.510+200T= XP_011542434.1:n.510+200T=
XM_011544132.2:c.510+200T= XP_011542434.1:n.510+200T=
NM_000143.4:c.738+200T= MANE Select NP_000134.2:n.738+200T=