Canonical Allele Identifier: CA203028
Gene: FIGLA HGNC NCBI

Linked Data

ClinVar Variation Id: 197698
ClinVar RCV Id: RCV000178810 RCV000331083
dbSNP Id: rs56135050
ExAC: 2:71004494 A / T
gnomAD v2: 2-71004494-A-T
gnomAD v3: 2-70777362-A-T
gnomAD v4: 2-70777362-A-T
MyVariant Identifiers: chr2:g.71004494A>T (hg19) chr2:g.70777362A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70777362A>T , CM000664.2:g.70777362A>T GRCh38
NC_000002.11:g.71004494A>T , CM000664.1:g.71004494A>T GRCh37
NC_000002.10:g.70858002A>T NCBI36
NG_013044.1:g.18282T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332372.6:c.*5T>A MANE Select ENSP00000333097.6:n.*5T>A
NM_001004311.3:c.*5T>A MANE Select NP_001004311.2:n.*5T>A
Search 100 bp 5'
Search 100 bp 3'