Canonical Allele Identifier: CA15160736
Gene: CTLA4 HGNC NCBI
dbSNP:
1024161
gnomAD v2:
2:204721752 T / C
gnomAD v3:
2:203857029 T / C
gnomAD v4:
chr2-203857029-T-C
Joint Max Group AF 0.6405844 (SAS)
Genomes Max Group AF 0.6405844 (SAS)
MyVariant.info:
GRCh38 chr2:g.203857029T>C
GRCh37 chr2:g.204721752T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203857029T>C , CM000664.2:g.203857029T>C GRCh38
NC_000002.11:g.204721752T>C , CM000664.1:g.204721752T>C GRCh37
NC_000002.10:g.204429997T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696479.1:c.47+2953T>C ENSP00000512655.1:n.47+2953T>C
XR_923797.1:n.225-5444T>C
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