Canonical Allele Identifier: CA63784544
Gene: CTLA4 HGNC NCBI

Linked Data

dbSNP Id: rs531665140
gnomAD v2: 2-204731047-T-C
gnomAD v3: 2-203866324-T-C
gnomAD v4: 2-203866324-T-C
MyVariant Identifiers: chr2:g.204731047T>C (hg19) chr2:g.203866324T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203866324T>C , CM000664.2:g.203866324T>C GRCh38
NC_000002.11:g.204731047T>C , CM000664.1:g.204731047T>C GRCh37
NC_000002.10:g.204439292T>C NCBI36
NG_011502.1:g.3539T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696479.1:c.48-1594T>C ENSP00000512655.1:n.48-1594T>C
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