Canonical Allele Identifier: CA1699650

Gene: FIGLA

Linked Data

• ClinVar Variation Id: 336909
• ClinVar RCV Id: RCV000373415 ; RCV001712124
• dbSNP Id: rs7566476
• ExAC: 2:71012734 C / G
• gnomAD v2: 2-71012734-C-G
• gnomAD v3: 2-70785602-C-G
• gnomAD v4: 2-70785602-C-G
• MyVariant Identifiers: chr2:g.71012734C>G (hg19) ; chr2:g.70785602C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70785602C>G , CM000664.2:g.70785602C>G	GRCh38
NC_000002.11:g.71012734C>G , CM000664.1:g.71012734C>G	GRCh37
NC_000002.10:g.70866242C>G	NCBI36
NG_013044.1:g.10042G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332372.6:c.422G>C MANE Select	ENSP00000333097.6:p.Ser141Thr
NM_001004311.3:c.422G>C MANE Select	NP_001004311.2:p.Ser141Thr