Canonical Allele Identifier: CA215560

Gene: FH

Linked Data

• ClinVar Variation Id: 41582
• ClinVar RCV Id: RCV000034484 ; RCV000463959 ; RCV000575301 ; RCV001101031
• dbSNP Id: rs201532589
• ExAC: 1:241676935 T / A
• gnomAD v2: 1-241676935-T-A
• gnomAD v3: 1-241513635-T-A
• gnomAD v4: 1-241513635-T-A
• MyVariant Identifiers: chr1:g.241676935T>A (hg19) ; chr1:g.241513635T>A (hg38)
• PubMed: PMID:22703879

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241513635T>A , CM000663.2:g.241513635T>A	GRCh38
NC_000001.10:g.241676935T>A , CM000663.1:g.241676935T>A	GRCh37
NC_000001.9:g.239743558T>A	NCBI36
NG_012338.1:g.11120A>T , LRG_504:g.11120A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.849A>T
ENST00000682162.1:c.375A>T	ENSP00000508203.1:n.375A>T
ENST00000682567.1:n.423A>T
ENST00000683521.1:c.346A>T	ENSP00000506864.1:p.Ile116Phe
ENST00000684483.1:c.346A>T	ENSP00000507894.1:p.Ile116Phe
ENST00000366560.4:c.346A>T MANE Select	ENSP00000355518.4:p.Ile116Phe
ENST00000366560.3:c.346A>T	ENSP00000355518.3:p.Ile116Phe
ENST00000497042.1:n.42A>T
NM_000143.3:c.346A>T , LRG_504t1:c.346A>T	NP_000134.2:p.Ile116Phe
XM_011544132.1:c.118A>T	XP_011542434.1:p.Ile40Phe
XM_011544132.2:c.118A>T	XP_011542434.1:p.Ile40Phe
NM_000143.4:c.346A>T MANE Select	NP_000134.2:p.Ile116Phe