Canonical Allele Identifier: CA1478573

Gene: FH

Linked Data

• ClinVar Variation Id: 460382
• ClinVar RCV Id: RCV001097195 ; RCV000540225 ; RCV000569138 ; RCV001731756 ; RCV002490990
• dbSNP Id: rs147991516
• ExAC: 1:241667533 A / G
• gnomAD v2: 1-241667533-A-G
• gnomAD v3: 1-241504233-A-G
• gnomAD v4: 1-241504233-A-G
• MyVariant Identifiers: chr1:g.241667533A>G (hg19) ; chr1:g.241504233A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504233A>G , CM000663.2:g.241504233A>G	GRCh38
NC_000001.10:g.241667533A>G , CM000663.1:g.241667533A>G	GRCh37
NC_000001.9:g.239734156A>G	NCBI36
NG_012338.1:g.20522T>C , LRG_504:g.20522T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1420T>C
ENST00000682162.1:c.946T>C	ENSP00000508203.1:n.946T>C
ENST00000682567.1:n.994T>C
ENST00000683521.1:c.917T>C	ENSP00000506864.1:p.Val306Ala
ENST00000684161.1:n.2132T>C
ENST00000684483.1:c.*313T>C	ENSP00000507894.1:n.*313T>C
ENST00000366560.4:c.917T>C MANE Select	ENSP00000355518.4:p.Val306Ala
ENST00000366560.3:c.917T>C	ENSP00000355518.3:p.Val306Ala
NM_000143.3:c.917T>C , LRG_504t1:c.917T>C	NP_000134.2:p.Val306Ala
XM_011544132.1:c.689T>C	XP_011542434.1:p.Val230Ala
XM_011544132.2:c.689T>C	XP_011542434.1:p.Val230Ala
NM_000143.4:c.917T>C MANE Select	NP_000134.2:p.Val306Ala