Canonical Allele Identifier: CA10613878

Gene: FIGLA

Linked Data

• ClinVar Variation Id: 336904
• ClinVar RCV Id: RCV000306696
• dbSNP Id: rs150205874
• gnomAD v2: 2-71004446-T-G
• gnomAD v3: 2-70777314-T-G
• gnomAD v4: 2-70777314-T-G
• MyVariant Identifiers: chr2:g.71004446T>G (hg19) ; chr2:g.70777314T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70777314T>G , CM000664.2:g.70777314T>G	GRCh38
NC_000002.11:g.71004446T>G , CM000664.1:g.71004446T>G	GRCh37
NC_000002.10:g.70857954T>G	NCBI36
NG_013044.1:g.18330A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332372.6:c.*53A>C MANE Select	ENSP00000333097.6:n.*53A>C
NM_001004311.3:c.*53A>C MANE Select	NP_001004311.2:n.*53A>C