Canonical Allele Identifier: CA1229580795
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241509003A= , CM000663.2:g.241509003A= GRCh38
NC_000001.10:g.241672303A= , CM000663.1:g.241672303A= GRCh37
NC_000001.9:g.239738926A= NCBI36
NG_012338.1:g.15752T= , LRG_504:g.15752T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1059-218T=
ENST00000682162.1:c.585-218T= ENSP00000508203.1:n.585-218T=
ENST00000682567.1:n.633-218T=
ENST00000683521.1:c.556-218T= ENSP00000506864.1:n.556-218T=
ENST00000684161.1:n.1553T=
ENST00000684483.1:c.556-243T= ENSP00000507894.1:n.556-243T=
ENST00000366560.4:c.556-218T= MANE Select ENSP00000355518.4:n.556-218T=
ENST00000366560.3:c.556-218T= ENSP00000355518.3:n.556-218T=
NM_000143.3:c.556-218T= , LRG_504t1:c.556-218T= NP_000134.2:n.556-218T=
XM_011544132.1:c.328-218T= XP_011542434.1:n.328-218T=
XM_011544132.2:c.328-218T= XP_011542434.1:n.328-218T=
NM_000143.4:c.556-218T= MANE Select NP_000134.2:n.556-218T=