Canonical Allele Identifier: CA2067123

Gene: CTLA4

Linked Data

• ClinVar Variation Id: 1326454
• ClinVar RCV Id: RCV001786634
• dbSNP Id: rs779775271
• ExAC: 2:204736139 A / G
• gnomAD v2: 2-204736139-A-G
• gnomAD v4: 2-203871416-A-G
• MyVariant Identifiers: chr2:g.204736139A>G (hg19) ; chr2:g.203871416A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871416A>G , CM000664.2:g.203871416A>G	GRCh38
NC_000002.11:g.204736139A>G , CM000664.1:g.204736139A>G	GRCh37
NC_000002.10:g.204444384A>G	NCBI36
NG_011502.1:g.8631A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.496A>G	ENSP00000512353.1:p.Ile166Val
ENST00000696479.1:c.568A>G	ENSP00000512655.1:p.Ile190Val
ENST00000427473.3:n.491+483A>G
ENST00000648405.2:c.496A>G MANE Select	ENSP00000497102.1:p.Ile166Val
ENST00000650075.1:n.520A>G
ENST00000295854.10:c.457+483A>G	ENSP00000295854.6:n.457+483A>G
ENST00000302823.7:c.496A>G	ENSP00000303939.3:p.Ile166Val
ENST00000427473.2:c.346+483A>G	ENSP00000409707.2:n.346+483A>G
ENST00000472206.1:c.172+768A>G	ENSP00000417779.1:n.172+768A>G
ENST00000487393.1:n.110-1292A>G
NM_001037631.2:c.457+483A>G	NP_001032720.1:n.457+483A>G
NM_005214.4:c.496A>G	NP_005205.2:p.Ile166Val
XR_241294.1:n.636A>G
NM_001037631.3:c.457+483A>G	NP_001032720.1:n.457+483A>G
NM_005214.5:c.496A>G MANE Select	NP_005205.2:p.Ile166Val