Canonical Allele Identifier: CA350138742

Gene: CTLA4

Linked Data

• ClinVar Variation Id: 495051
• ClinVar RCV Id: RCV000585701
• dbSNP Id: rs1553657430
• MyVariant Identifiers: chr2:g.204735611C>A (hg19) ; chr2:g.203870888C>A (hg38)
• PubMed: PMID:26478010

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203870888C>A , CM000664.2:g.203870888C>A	GRCh38
NC_000002.11:g.204735611C>A , CM000664.1:g.204735611C>A	GRCh37
NC_000002.10:g.204443856C>A	NCBI36
NG_011502.1:g.8103C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696049.1:c.412C>A	ENSP00000512353.1:p.Pro138Thr
ENST00000696479.1:c.484C>A	ENSP00000512655.1:p.Pro162Thr
ENST00000427473.3:n.446C>A
ENST00000648405.2:c.412C>A MANE Select	ENSP00000497102.1:p.Pro138Thr
ENST00000650075.1:n.436C>A
ENST00000295854.10:c.412C>A	ENSP00000295854.6:p.Pro138Thr
ENST00000302823.7:c.412C>A	ENSP00000303939.3:p.Pro138Thr
ENST00000427473.2:c.301C>A	ENSP00000409707.2:p.Pro101Thr
ENST00000472206.1:c.172+240C>A	ENSP00000417779.1:n.172+240C>A
ENST00000487393.1:n.110-1820C>A
NM_001037631.2:c.412C>A	NP_001032720.1:p.Pro138Thr
NM_005214.4:c.412C>A	NP_005205.2:p.Pro138Thr
XR_241294.1:n.552C>A
NM_001037631.3:c.412C>A	NP_001032720.1:p.Pro138Thr
NM_005214.5:c.412C>A MANE Select	NP_005205.2:p.Pro138Thr