Canonical Allele Identifier: CA345439943

Gene: FH

Linked Data

• ClinVar Variation Id: 644681
• ClinVar RCV Id: RCV002537094 ; RCV002334505 ; RCV003467373
• dbSNP Id: rs1573885360
• gnomAD v4: 1-241512013-C-T
• MyVariant Identifiers: chr1:g.241675313C>T (hg19) ; chr1:g.241512013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512013C>T , CM000663.2:g.241512013C>T	GRCh38
NC_000001.10:g.241675313C>T , CM000663.1:g.241675313C>T	GRCh37
NC_000001.9:g.239741936C>T	NCBI36
NG_012338.1:g.12742G>A , LRG_504:g.12742G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1012G>A
ENST00000682162.1:c.538G>A	ENSP00000508203.1:n.538G>A
ENST00000682567.1:n.586G>A
ENST00000683521.1:c.509G>A	ENSP00000506864.1:p.Gly170Asp
ENST00000684483.1:c.509G>A	ENSP00000507894.1:p.Gly170Asp
ENST00000366560.4:c.509G>A MANE Select	ENSP00000355518.4:p.Gly170Asp
ENST00000366560.3:c.509G>A	ENSP00000355518.3:p.Gly170Asp
ENST00000497042.1:n.205G>A
NM_000143.3:c.509G>A , LRG_504t1:c.509G>A	NP_000134.2:p.Gly170Asp
XM_011544132.1:c.281G>A	XP_011542434.1:p.Gly94Asp
XM_011544132.2:c.281G>A	XP_011542434.1:p.Gly94Asp
NM_000143.4:c.509G>A MANE Select	NP_000134.2:p.Gly170Asp