Canonical Allele Identifier: CA10588292

Gene: FH

Linked Data

• ClinVar Variation Id: 265146
• ClinVar RCV Id: RCV000255340 ; RCV001020456 ; RCV003456040
• dbSNP Id: rs886039363
• gnomAD v4: 1-241513632-C-G
• MyVariant Identifiers: chr1:g.241676932C>G (hg19) ; chr1:g.241513632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241513632C>G , CM000663.2:g.241513632C>G	GRCh38
NC_000001.10:g.241676932C>G , CM000663.1:g.241676932C>G	GRCh37
NC_000001.9:g.239743555C>G	NCBI36
NG_012338.1:g.11123G>C , LRG_504:g.11123G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.852G>C
ENST00000682162.1:c.378G>C	ENSP00000508203.1:n.378G>C
ENST00000682567.1:n.426G>C
ENST00000683521.1:c.349G>C	ENSP00000506864.1:p.Ala117Pro
ENST00000684483.1:c.349G>C	ENSP00000507894.1:p.Ala117Pro
ENST00000366560.4:c.349G>C MANE Select	ENSP00000355518.4:p.Ala117Pro
ENST00000366560.3:c.349G>C	ENSP00000355518.3:p.Ala117Pro
ENST00000497042.1:n.45G>C
NM_000143.3:c.349G>C , LRG_504t1:c.349G>C	NP_000134.2:p.Ala117Pro
XM_011544132.1:c.121G>C	XP_011542434.1:p.Ala41Pro
XM_011544132.2:c.121G>C	XP_011542434.1:p.Ala41Pro
NM_000143.4:c.349G>C MANE Select	NP_000134.2:p.Ala117Pro