Canonical Allele Identifier: CA192361

Gene: FH

Linked Data

• ClinVar Variation Id: 185591
• ClinVar RCV Id: RCV000165037 ; RCV000349307 ; RCV000388495 ; RCV001582651
• dbSNP Id: rs61753295
• ExAC: 1:241676976 G / A
• gnomAD v2: 1-241676976-G-A
• gnomAD v3: 1-241513676-G-A
• gnomAD v4: 1-241513676-G-A
• COSMIC: COSM2049928
• MyVariant Identifiers: chr1:g.241676976G>A (hg19) ; chr1:g.241513676G>A (hg38)
• PubMed: PMID:18366737

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241513676G>A , CM000663.2:g.241513676G>A	GRCh38
NC_000001.10:g.241676976G>A , CM000663.1:g.241676976G>A	GRCh37
NC_000001.9:g.239743599G>A	NCBI36
NG_012338.1:g.11079C>T , LRG_504:g.11079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.808C>T
ENST00000682162.1:c.334C>T	ENSP00000508203.1:n.334C>T
ENST00000682567.1:n.382C>T
ENST00000683521.1:c.305C>T	ENSP00000506864.1:p.Ala102Val
ENST00000684483.1:c.305C>T	ENSP00000507894.1:p.Ala102Val
ENST00000366560.4:c.305C>T MANE Select	ENSP00000355518.4:p.Ala102Val
ENST00000366560.3:c.305C>T	ENSP00000355518.3:p.Ala102Val
ENST00000497042.1:n.1C>T
NM_000143.3:c.305C>T , LRG_504t1:c.305C>T	NP_000134.2:p.Ala102Val
XM_011544132.1:c.77C>T	XP_011542434.1:p.Ala26Val
XM_011544132.2:c.77C>T	XP_011542434.1:p.Ala26Val
NM_000143.4:c.305C>T MANE Select	NP_000134.2:p.Ala102Val