Canonical Allele Identifier: CA345440698
Community Standard Title: NM_000143.4(FH):c.327T>A (p.Asp109Glu)
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241513654A>T , CM000663.2:g.241513654A>T GRCh38
NC_000001.10:g.241676954A>T , CM000663.1:g.241676954A>T GRCh37
NC_000001.9:g.239743577A>T NCBI36
NG_012338.1:g.11101T>A , LRG_504:g.11101T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000143.4:c.327T>A MANE Select NP_000134.2:p.Asp109Glu
ENST00000366560.4:c.327T>A MANE Select ENSP00000355518.4:p.Asp109Glu
NM_000143.3:c.327T>A , LRG_504t1:c.327T>A NP_000134.2:p.Asp109Glu
ENST00000366560.3:c.327T>A ENSP00000355518.3:p.Asp109Glu
ENST00000493477.2:n.830T>A
ENST00000497042.1:n.23T>A
ENST00000682162.1:c.356T>A ENSP00000508203.1:n.356T>A
ENST00000682567.1:n.404T>A
ENST00000683521.1:c.327T>A ENSP00000506864.1:p.Asp109Glu
ENST00000684483.1:c.327T>A ENSP00000507894.1:p.Asp109Glu
XM_011544132.1:c.99T>A XP_011542434.1:p.Asp33Glu
XM_011544132.2:c.99T>A XP_011542434.1:p.Asp33Glu