Canonical Allele Identifier: CA1699650
Gene: FIGLA HGNC NCBI

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)
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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
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