Canonical Allele Identifier: CA345440001

Gene: FH

Linked Data

• ClinVar Variation Id: 1389359
• ClinVar RCV Id: RCV002554136
• dbSNP Id: rs2147921864
• MyVariant Identifiers: chr1:g.241675338T>C (hg19) ; chr1:g.241512038T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512038T>C , CM000663.2:g.241512038T>C	GRCh38
NC_000001.10:g.241675338T>C , CM000663.1:g.241675338T>C	GRCh37
NC_000001.9:g.239741961T>C	NCBI36
NG_012338.1:g.12717A>G , LRG_504:g.12717A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.987A>G
ENST00000682162.1:c.513A>G	ENSP00000508203.1:n.513A>G
ENST00000682567.1:n.561A>G
ENST00000683521.1:c.484A>G	ENSP00000506864.1:p.Ile162Val
ENST00000684483.1:c.484A>G	ENSP00000507894.1:p.Ile162Val
ENST00000366560.4:c.484A>G MANE Select	ENSP00000355518.4:p.Ile162Val
ENST00000366560.3:c.484A>G	ENSP00000355518.3:p.Ile162Val
ENST00000497042.1:n.180A>G
NM_000143.3:c.484A>G , LRG_504t1:c.484A>G	NP_000134.2:p.Ile162Val
XM_011544132.1:c.256A>G	XP_011542434.1:p.Ile86Val
XM_011544132.2:c.256A>G	XP_011542434.1:p.Ile86Val
NM_000143.4:c.484A>G MANE Select	NP_000134.2:p.Ile162Val