Canonical Allele Identifier: CA345437656

Gene: FH

Linked Data

• ClinVar Variation Id: 952917
• ClinVar RCV Id: RCV002563071
• dbSNP Id: rs542014575
• gnomAD v4: 1-241502560-G-T
• MyVariant Identifiers: chr1:g.241665860G>T (hg19) ; chr1:g.241502560G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502560G>T , CM000663.2:g.241502560G>T	GRCh38
NC_000001.10:g.241665860G>T , CM000663.1:g.241665860G>T	GRCh37
NC_000001.9:g.239732483G>T	NCBI36
NG_012338.1:g.22195C>A , LRG_504:g.22195C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1622C>A
ENST00000682162.1:c.1148C>A	ENSP00000508203.1:n.1148C>A
ENST00000682567.1:n.2667C>A
ENST00000683521.1:c.1119C>A	ENSP00000506864.1:p.Asn373Lys
ENST00000684161.1:n.2334C>A
ENST00000684483.1:c.*515C>A	ENSP00000507894.1:n.*515C>A
ENST00000366560.4:c.1119C>A MANE Select	ENSP00000355518.4:p.Asn373Lys
ENST00000366560.3:c.1119C>A	ENSP00000355518.3:p.Asn373Lys
NM_000143.3:c.1119C>A , LRG_504t1:c.1119C>A	NP_000134.2:p.Asn373Lys
XM_011544132.1:c.891C>A	XP_011542434.1:p.Asn297Lys
XM_011544132.2:c.891C>A	XP_011542434.1:p.Asn297Lys
NM_000143.4:c.1119C>A MANE Select	NP_000134.2:p.Asn373Lys