Canonical Allele Identifier: CA345442737
Community Standard Title: NM_000143.4(FH):c.89G>A (p.Gly30Asp)
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241519634C>T , CM000663.2:g.241519634C>T GRCh38
NC_000001.10:g.241682934C>T , CM000663.1:g.241682934C>T GRCh37
NC_000001.9:g.239749557C>T NCBI36
NG_012338.1:g.5121G>A , LRG_504:g.5121G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000143.4:c.89G>A MANE Select NP_000134.2:p.Gly30Asp
ENST00000366560.4:c.89G>A MANE Select ENSP00000355518.4:p.Gly30Asp
NM_000143.3:c.89G>A , LRG_504t1:c.89G>A NP_000134.2:p.Gly30Asp
ENST00000366560.3:c.89G>A ENSP00000355518.3:p.Gly30Asp
ENST00000493477.2:n.61G>A
ENST00000682162.1:c.89G>A ENSP00000508203.1:p.Gly30Asp
ENST00000682567.1:n.166G>A
ENST00000683521.1:c.89G>A ENSP00000506864.1:p.Gly30Asp
ENST00000684483.1:c.89G>A ENSP00000507894.1:p.Gly30Asp
XM_011544132.2:c.-671G>A XP_011542434.1:n.-671G>A