Canonical Allele Identifier: CA1699691

Gene: FIGLA

Linked Data

• ClinVar Variation Id: 336911
• ClinVar RCV Id: RCV000319665
• dbSNP Id: rs199702150
• ExAC: 2:71014917 C / T
• gnomAD v2: 2-71014917-C-T
• gnomAD v3: 2-70787785-C-T
• gnomAD v4: 2-70787785-C-T
• MyVariant Identifiers: chr2:g.71014917C>T (hg19) ; chr2:g.70787785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70787785C>T , CM000664.2:g.70787785C>T	GRCh38
NC_000002.11:g.71014917C>T , CM000664.1:g.71014917C>T	GRCh37
NC_000002.10:g.70868425C>T	NCBI36
NG_013044.1:g.7859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332372.6:c.248G>A MANE Select	ENSP00000333097.6:p.Arg83His
NM_001004311.3:c.248G>A MANE Select	NP_001004311.2:p.Arg83His