Canonical Allele Identifier: CA345439317

Gene: FH

Linked Data

• ClinVar Variation Id: 1047745
• ClinVar RCV Id: RCV001352503 ; RCV002547560 ; RCV003339610
• dbSNP Id: rs199536615
• MyVariant Identifiers: chr1:g.241671993A>C (hg19) ; chr1:g.241508693A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508693A>C , CM000663.2:g.241508693A>C	GRCh38
NC_000001.10:g.241671993A>C , CM000663.1:g.241671993A>C	GRCh37
NC_000001.9:g.239738616A>C	NCBI36
NG_012338.1:g.16062T>G , LRG_504:g.16062T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1151T>G
ENST00000682162.1:c.677T>G	ENSP00000508203.1:n.677T>G
ENST00000682567.1:n.725T>G
ENST00000683521.1:c.648T>G	ENSP00000506864.1:p.Asp216Glu
ENST00000684161.1:n.1863T>G
ENST00000684483.1:c.*44T>G	ENSP00000507894.1:n.*44T>G
ENST00000366560.4:c.648T>G MANE Select	ENSP00000355518.4:p.Asp216Glu
ENST00000366560.3:c.648T>G	ENSP00000355518.3:p.Asp216Glu
NM_000143.3:c.648T>G , LRG_504t1:c.648T>G	NP_000134.2:p.Asp216Glu
XM_011544132.1:c.420T>G	XP_011542434.1:p.Asp140Glu
XM_011544132.2:c.420T>G	XP_011542434.1:p.Asp140Glu
NM_000143.4:c.648T>G MANE Select	NP_000134.2:p.Asp216Glu