Allele Registry

Canonical Allele Identifier: CA11095291

Gene: CTLA4 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr2:g.203866178T>C

GRCh37 chr2:g.204730901T>C

Linked Data - Sequence & Population

gnomAD v2:

2:204730901 T / C

gnomAD v3:

2:203866178 T / C

gnomAD v4:

chr2-203866178-T-C

Joint Max Group AF 0.63501895 (SAS)

Genomes Max Group AF 0.63501895 (SAS)

Linked Data - NCBI & NCI

dbSNP:

11571315

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203866178T>C , CM000664.2:g.203866178T>C	GRCh38
NC_000002.11:g.204730901T>C , CM000664.1:g.204730901T>C	GRCh37
NC_000002.10:g.204439146T>C	NCBI36
NG_011502.1:g.3393T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696479.1:c.48-1740T>C	ENSP00000512655.1:n.48-1740T>C

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