Canonical Allele Identifier: CA763579865
Gene: CTLA4 HGNC NCBI

Linked Data

dbSNP Id: rs1302433830
gnomAD v3: 2-203857239-GT-G
gnomAD v4: 2-203857239-GT-G
MyVariant Identifiers: chr2:g.204721963del (hg19) chr2:g.203857240del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203857243del , CM000664.2:g.203857243del GRCh38
NC_000002.11:g.204721966del , CM000664.1:g.204721966del GRCh37
NC_000002.10:g.204430211del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696479.1:c.47+3167del ENSP00000512655.1:n.47+3167del
XR_923797.1:n.225-5230del
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