Canonical Allele Identifier: CA16617117

Gene: FH

Linked Data

• ClinVar Variation Id: 421681
• ClinVar RCV Id: RCV000480081 ; RCV001025534 ; RCV001069489
• dbSNP Id: rs1064795294
• gnomAD v4: 1-241508673-T-G
• MyVariant Identifiers: chr1:g.241671973T>G (hg19) ; chr1:g.241508673T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508673T>G , CM000663.2:g.241508673T>G	GRCh38
NC_000001.10:g.241671973T>G , CM000663.1:g.241671973T>G	GRCh37
NC_000001.9:g.239738596T>G	NCBI36
NG_012338.1:g.16082A>C , LRG_504:g.16082A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1171A>C
ENST00000682162.1:c.697A>C	ENSP00000508203.1:n.697A>C
ENST00000682567.1:n.745A>C
ENST00000683521.1:c.668A>C	ENSP00000506864.1:p.Lys223Thr
ENST00000684161.1:n.1883A>C
ENST00000684483.1:c.*64A>C	ENSP00000507894.1:n.*64A>C
ENST00000366560.4:c.668A>C MANE Select	ENSP00000355518.4:p.Lys223Thr
ENST00000366560.3:c.668A>C	ENSP00000355518.3:p.Lys223Thr
NM_000143.3:c.668A>C , LRG_504t1:c.668A>C	NP_000134.2:p.Lys223Thr
XM_011544132.1:c.440A>C	XP_011542434.1:p.Lys147Thr
XM_011544132.2:c.440A>C	XP_011542434.1:p.Lys147Thr
NM_000143.4:c.668A>C MANE Select	NP_000134.2:p.Lys223Thr