Canonical Allele Identifier: CA539149440

Gene: CTLA4

Linked Data

• dbSNP Id: rs1464894750
• gnomAD v2: 2-204736282-A-C
• gnomAD v3: 2-203871559-A-C
• gnomAD v4: 2-203871559-A-C
• MyVariant Identifiers: chr2:g.204736282A>C (hg19) ; chr2:g.203871559A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871559A>C , CM000664.2:g.203871559A>C	GRCh38
NC_000002.11:g.204736282A>C , CM000664.1:g.204736282A>C	GRCh37
NC_000002.10:g.204444527A>C	NCBI36
NG_011502.1:g.8774A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.507+132A>C	ENSP00000512353.1:n.507+132A>C
ENST00000696479.1:c.639+72A>C	ENSP00000512655.1:n.639+72A>C
ENST00000427473.3:n.491+626A>C
ENST00000648405.2:c.567+72A>C MANE Select	ENSP00000497102.1:n.567+72A>C
ENST00000650075.1:n.591+72A>C
ENST00000295854.10:c.457+626A>C	ENSP00000295854.6:n.457+626A>C
ENST00000302823.7:c.567+72A>C	ENSP00000303939.3:n.567+72A>C
ENST00000427473.2:c.346+626A>C	ENSP00000409707.2:n.346+626A>C
ENST00000472206.1:c.172+911A>C	ENSP00000417779.1:n.172+911A>C
ENST00000487393.1:n.110-1149A>C
NM_001037631.2:c.457+626A>C	NP_001032720.1:n.457+626A>C
NM_005214.4:c.567+72A>C	NP_005205.2:n.567+72A>C
XR_241294.1:n.707+72A>C
NM_001037631.3:c.457+626A>C	NP_001032720.1:n.457+626A>C
NM_005214.5:c.567+72A>C MANE Select	NP_005205.2:n.567+72A>C