Canonical Allele Identifier: CA2067025
Gene: CTLA4 HGNC NCBI

Linked Data

dbSNP Id: rs764001287
ExAC: 2:204732650 C / A
gnomAD v2: 2-204732650-C-A
gnomAD v4: 2-203867927-C-A
MyVariant Identifiers: chr2:g.204732650C>A (hg19) chr2:g.203867927C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203867927C>A , CM000664.2:g.203867927C>A GRCh38
NC_000002.11:g.204732650C>A , CM000664.1:g.204732650C>A GRCh37
NC_000002.10:g.204440895C>A NCBI36
NG_011502.1:g.5142C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696049.1:c.-16C>A ENSP00000512353.1:n.-16C>A
ENST00000696479.1:c.57C>A ENSP00000512655.1:p.His19Gln
ENST00000648405.2:c.-16C>A MANE Select ENSP00000497102.1:n.-16C>A
ENST00000302823.7:c.-16C>A ENSP00000303939.3:n.-16C>A
NM_001037631.2:c.-16C>A NP_001032720.1:n.-16C>A
NM_005214.4:c.-16C>A NP_005205.2:n.-16C>A
XR_241294.1:n.125C>A
NM_001037631.3:c.-16C>A NP_001032720.1:n.-16C>A
NM_005214.5:c.-16C>A MANE Select NP_005205.2:n.-16C>A
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