Canonical Allele Identifier: CA197225

Gene: FH

Linked Data

• ClinVar Variation Id: 187279
• ClinVar RCV Id: RCV000166997 ; RCV000469505 ; RCV001101030 ; RCV003320130 ; RCV002516512
• dbSNP Id: rs199641124
• ExAC: 1:241676923 T / C
• gnomAD v2: 1-241676923-T-C
• gnomAD v3: 1-241513623-T-C
• gnomAD v4: 1-241513623-T-C
• MyVariant Identifiers: chr1:g.241676923T>C (hg19) ; chr1:g.241513623T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241513623T>C , CM000663.2:g.241513623T>C	GRCh38
NC_000001.10:g.241676923T>C , CM000663.1:g.241676923T>C	GRCh37
NC_000001.9:g.239743546T>C	NCBI36
NG_012338.1:g.11132A>G , LRG_504:g.11132A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.861A>G
ENST00000682162.1:c.387A>G	ENSP00000508203.1:n.387A>G
ENST00000682567.1:n.435A>G
ENST00000683521.1:c.358A>G	ENSP00000506864.1:p.Ile120Val
ENST00000684483.1:c.358A>G	ENSP00000507894.1:p.Ile120Val
ENST00000366560.4:c.358A>G MANE Select	ENSP00000355518.4:p.Ile120Val
ENST00000366560.3:c.358A>G	ENSP00000355518.3:p.Ile120Val
ENST00000497042.1:n.54A>G
NM_000143.3:c.358A>G , LRG_504t1:c.358A>G	NP_000134.2:p.Ile120Val
XM_011544132.1:c.130A>G	XP_011542434.1:p.Ile44Val
XM_011544132.2:c.130A>G	XP_011542434.1:p.Ile44Val
NM_000143.4:c.358A>G MANE Select	NP_000134.2:p.Ile120Val