Canonical Allele Identifier: CA1478642

Gene: FH

Linked Data

• ClinVar Variation Id: 485556
• ClinVar RCV Id: RCV000564564 ; RCV000705539 ; RCV001529212 ; RCV001821687
• dbSNP Id: rs199536615
• ExAC: 1:241671993 A / T
• gnomAD v2: 1-241671993-A-T
• gnomAD v3: 1-241508693-A-T
• gnomAD v4: 1-241508693-A-T
• MyVariant Identifiers: chr1:g.241671993A>T (hg19) ; chr1:g.241508693A>T (hg38)

Genomic Alleles

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

Transcript Alleles

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