Canonical Allele Identifier: CA1229580666
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508697T= , CM000663.2:g.241508697T= GRCh38
NC_000001.10:g.241671997T= , CM000663.1:g.241671997T= GRCh37
NC_000001.9:g.239738620T= NCBI36
NG_012338.1:g.16058A= , LRG_504:g.16058A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1147A=
ENST00000682162.1:c.673A= ENSP00000508203.1:n.673A=
ENST00000682567.1:n.721A=
ENST00000683521.1:c.644A= ENSP00000506864.1:p.His215=
ENST00000684161.1:n.1859A=
ENST00000684483.1:c.*40A= ENSP00000507894.1:n.*40A=
ENST00000366560.4:c.644A= MANE Select ENSP00000355518.4:p.His215=
ENST00000366560.3:c.644A= ENSP00000355518.3:p.His215=
NM_000143.3:c.644A= , LRG_504t1:c.644A= NP_000134.2:p.His215=
XM_011544132.1:c.416A= XP_011542434.1:p.His139=
XM_011544132.2:c.416A= XP_011542434.1:p.His139=
NM_000143.4:c.644A= MANE Select NP_000134.2:p.His215=