Canonical Allele Identifier: CA539147735
Gene: CTLA4 HGNC NCBI

Linked Data

dbSNP Id: rs1457213523
gnomAD v2: 2-204722071-T-C
gnomAD v3: 2-203857348-T-C
gnomAD v4: 2-203857348-T-C
MyVariant Identifiers: chr2:g.204722071T>C (hg19) chr2:g.203857348T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203857348T>C , CM000664.2:g.203857348T>C GRCh38
NC_000002.11:g.204722071T>C , CM000664.1:g.204722071T>C GRCh37
NC_000002.10:g.204430316T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696479.1:c.47+3272T>C ENSP00000512655.1:n.47+3272T>C
XR_923797.1:n.225-5125T>C
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