Canonical Allele Identifier: CA1478677

Gene: FH

Linked Data

• ClinVar Variation Id: 937464
• ClinVar RCV Id: RCV002561226
• dbSNP Id: rs778399986
• ExAC: 1:241675353 T / C
• gnomAD v2: 1-241675353-T-C
• gnomAD v4: 1-241512053-T-C
• MyVariant Identifiers: chr1:g.241675353T>C (hg19) ; chr1:g.241512053T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512053T>C , CM000663.2:g.241512053T>C	GRCh38
NC_000001.10:g.241675353T>C , CM000663.1:g.241675353T>C	GRCh37
NC_000001.9:g.239741976T>C	NCBI36
NG_012338.1:g.12702A>G , LRG_504:g.12702A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.972A>G
ENST00000682162.1:c.498A>G	ENSP00000508203.1:n.498A>G
ENST00000682567.1:n.546A>G
ENST00000683521.1:c.469A>G	ENSP00000506864.1:p.Ile157Val
ENST00000684483.1:c.469A>G	ENSP00000507894.1:p.Ile157Val
ENST00000366560.4:c.469A>G MANE Select	ENSP00000355518.4:p.Ile157Val
ENST00000366560.3:c.469A>G	ENSP00000355518.3:p.Ile157Val
ENST00000497042.1:n.165A>G
NM_000143.3:c.469A>G , LRG_504t1:c.469A>G	NP_000134.2:p.Ile157Val
XM_011544132.1:c.241A>G	XP_011542434.1:p.Ile81Val
XM_011544132.2:c.241A>G	XP_011542434.1:p.Ile81Val
NM_000143.4:c.469A>G MANE Select	NP_000134.2:p.Ile157Val