Canonical Allele Identifier: CA1478676

Gene: FH

Linked Data

• ClinVar Variation Id: 513740
• ClinVar RCV Id: RCV001698020 ; RCV002331064
• dbSNP Id: rs372913738
• ExAC: 1:241675345 A / G
• gnomAD v2: 1-241675345-A-G
• gnomAD v4: 1-241512045-A-G
• MyVariant Identifiers: chr1:g.241675345A>G (hg19) ; chr1:g.241512045A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512045A>G , CM000663.2:g.241512045A>G	GRCh38
NC_000001.10:g.241675345A>G , CM000663.1:g.241675345A>G	GRCh37
NC_000001.9:g.239741968A>G	NCBI36
NG_012338.1:g.12710T>C , LRG_504:g.12710T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.980T>C
ENST00000682162.1:c.506T>C	ENSP00000508203.1:n.506T>C
ENST00000682567.1:n.554T>C
ENST00000683521.1:c.477T>C	ENSP00000506864.1:p.Asn159=
ENST00000684483.1:c.477T>C	ENSP00000507894.1:p.Asn159=
ENST00000366560.4:c.477T>C MANE Select	ENSP00000355518.4:p.Asn159=
ENST00000366560.3:c.477T>C	ENSP00000355518.3:p.Asn159=
ENST00000497042.1:n.173T>C
NM_000143.3:c.477T>C , LRG_504t1:c.477T>C	NP_000134.2:p.Asn159=
XM_011544132.1:c.249T>C	XP_011542434.1:p.Asn83=
XM_011544132.2:c.249T>C	XP_011542434.1:p.Asn83=
NM_000143.4:c.477T>C MANE Select	NP_000134.2:p.Asn159=