Canonical Allele Identifier: CA350138966

Gene: CTLA4

Linked Data

• ClinVar Variation Id: 2016051
• ClinVar RCV Id: RCV002846663
• MyVariant Identifiers: chr2:g.204736149C>A (hg19) ; chr2:g.203871426C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871426C>A , CM000664.2:g.203871426C>A	GRCh38
NC_000002.11:g.204736149C>A , CM000664.1:g.204736149C>A	GRCh37
NC_000002.10:g.204444394C>A	NCBI36
NG_011502.1:g.8641C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.506C>A	ENSP00000512353.1:p.Ala169Glu
ENST00000696479.1:c.578C>A	ENSP00000512655.1:p.Ala193Glu
ENST00000427473.3:n.491+493C>A
ENST00000648405.2:c.506C>A MANE Select	ENSP00000497102.1:p.Ala169Glu
ENST00000650075.1:n.530C>A
ENST00000295854.10:c.457+493C>A	ENSP00000295854.6:n.457+493C>A
ENST00000302823.7:c.506C>A	ENSP00000303939.3:p.Ala169Glu
ENST00000427473.2:c.346+493C>A	ENSP00000409707.2:n.346+493C>A
ENST00000472206.1:c.172+778C>A	ENSP00000417779.1:n.172+778C>A
ENST00000487393.1:n.110-1282C>A
NM_001037631.2:c.457+493C>A	NP_001032720.1:n.457+493C>A
NM_005214.4:c.506C>A	NP_005205.2:p.Ala169Glu
XR_241294.1:n.646C>A
NM_001037631.3:c.457+493C>A	NP_001032720.1:n.457+493C>A
NM_005214.5:c.506C>A MANE Select	NP_005205.2:p.Ala169Glu