Canonical Allele Identifier: CA345439960

Gene: FH

Linked Data

• ClinVar Variation Id: 643632
• ClinVar RCV Id: RCV002534618
• dbSNP Id: rs1573885382
• MyVariant Identifiers: chr1:g.241675320C>G (hg19) ; chr1:g.241512020C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512020C>G , CM000663.2:g.241512020C>G	GRCh38
NC_000001.10:g.241675320C>G , CM000663.1:g.241675320C>G	GRCh37
NC_000001.9:g.239741943C>G	NCBI36
NG_012338.1:g.12735G>C , LRG_504:g.12735G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1005G>C
ENST00000682162.1:c.531G>C	ENSP00000508203.1:n.531G>C
ENST00000682567.1:n.579G>C
ENST00000683521.1:c.502G>C	ENSP00000506864.1:p.Glu168Gln
ENST00000684483.1:c.502G>C	ENSP00000507894.1:p.Glu168Gln
ENST00000366560.4:c.502G>C MANE Select	ENSP00000355518.4:p.Glu168Gln
ENST00000366560.3:c.502G>C	ENSP00000355518.3:p.Glu168Gln
ENST00000497042.1:n.198G>C
NM_000143.3:c.502G>C , LRG_504t1:c.502G>C	NP_000134.2:p.Glu168Gln
XM_011544132.1:c.274G>C	XP_011542434.1:p.Glu92Gln
XM_011544132.2:c.274G>C	XP_011542434.1:p.Glu92Gln
NM_000143.4:c.502G>C MANE Select	NP_000134.2:p.Glu168Gln