Canonical Allele Identifier: CA539149436

Gene: CTLA4

Linked Data

• dbSNP Id: rs1198695523
• gnomAD v2: 2-204736231-G-A
• gnomAD v3: 2-203871508-G-A
• gnomAD v4: 2-203871508-G-A
• MyVariant Identifiers: chr2:g.204736231G>A (hg19) ; chr2:g.203871508G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871508G>A , CM000664.2:g.203871508G>A	GRCh38
NC_000002.11:g.204736231G>A , CM000664.1:g.204736231G>A	GRCh37
NC_000002.10:g.204444476G>A	NCBI36
NG_011502.1:g.8723G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696049.1:c.507+81G>A	ENSP00000512353.1:n.507+81G>A
ENST00000696479.1:c.639+21G>A	ENSP00000512655.1:n.639+21G>A
ENST00000427473.3:n.491+575G>A
ENST00000648405.2:c.567+21G>A MANE Select	ENSP00000497102.1:n.567+21G>A
ENST00000650075.1:n.591+21G>A
ENST00000295854.10:c.457+575G>A	ENSP00000295854.6:n.457+575G>A
ENST00000302823.7:c.567+21G>A	ENSP00000303939.3:n.567+21G>A
ENST00000427473.2:c.346+575G>A	ENSP00000409707.2:n.346+575G>A
ENST00000472206.1:c.172+860G>A	ENSP00000417779.1:n.172+860G>A
ENST00000487393.1:n.110-1200G>A
NM_001037631.2:c.457+575G>A	NP_001032720.1:n.457+575G>A
NM_005214.4:c.567+21G>A	NP_005205.2:n.567+21G>A
XR_241294.1:n.707+21G>A
NM_001037631.3:c.457+575G>A	NP_001032720.1:n.457+575G>A
NM_005214.5:c.567+21G>A MANE Select	NP_005205.2:n.567+21G>A