Canonical Allele Identifier: CA257459

Gene: FH

Linked Data

• ClinVar Variation Id: 16236
• ClinVar RCV Id: RCV000017623 ; RCV000196988 ; RCV000178717 ; RCV000493379 ; RCV003128387 ; RCV003330393 ; RCV004541007
• dbSNP Id: rs121913123
• ExAC: 1:241671943 C / T
• gnomAD v2: 1-241671943-C-T
• gnomAD v3: 1-241508643-C-T
• gnomAD v4: 1-241508643-C-T
• MyVariant Identifiers: chr1:g.241671943C>T (hg19) ; chr1:g.241508643C>T (hg38)
• PubMed: PMID:11865300 ; PMID:12761039 ; PMID:12772087 ; PMID:15937070 ; PMID:18176756 ; PMID:20618355 ; PMID:21445611 ; PMID:21733559 ; PMID:23211287 ; PMID:23891399 ; PMID:27051714

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508643C>T , CM000663.2:g.241508643C>T	GRCh38
NC_000001.10:g.241671943C>T , CM000663.1:g.241671943C>T	GRCh37
NC_000001.9:g.239738566C>T	NCBI36
NG_012338.1:g.16112G>A , LRG_504:g.16112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1201G>A
ENST00000682162.1:c.727G>A	ENSP00000508203.1:n.727G>A
ENST00000682567.1:n.775G>A
ENST00000683521.1:c.698G>A	ENSP00000506864.1:p.Arg233His
ENST00000684161.1:n.1913G>A
ENST00000684483.1:c.*94G>A	ENSP00000507894.1:n.*94G>A
ENST00000366560.4:c.698G>A MANE Select	ENSP00000355518.4:p.Arg233His
ENST00000366560.3:c.698G>A	ENSP00000355518.3:p.Arg233His
NM_000143.3:c.698G>A , LRG_504t1:c.698G>A	NP_000134.2:p.Arg233His
XM_011544132.1:c.470G>A	XP_011542434.1:p.Arg157His
XM_011544132.2:c.470G>A	XP_011542434.1:p.Arg157His
NM_000143.4:c.698G>A MANE Select	NP_000134.2:p.Arg233His