Canonical Allele Identifier: CA350139002

Gene: CTLA4

Linked Data

• COSMIC: COSM4308849
• MyVariant Identifiers: chr2:g.204736166T>G (hg19) ; chr2:g.203871443T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871443T>G , CM000664.2:g.203871443T>G	GRCh38
NC_000002.11:g.204736166T>G , CM000664.1:g.204736166T>G	GRCh37
NC_000002.10:g.204444411T>G	NCBI36
NG_011502.1:g.8658T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.507+16T>G	ENSP00000512353.1:n.507+16T>G
ENST00000696479.1:c.595T>G	ENSP00000512655.1:p.Phe199Val
ENST00000427473.3:n.491+510T>G
ENST00000648405.2:c.523T>G MANE Select	ENSP00000497102.1:p.Phe175Val
ENST00000650075.1:n.547T>G
ENST00000295854.10:c.457+510T>G	ENSP00000295854.6:n.457+510T>G
ENST00000302823.7:c.523T>G	ENSP00000303939.3:p.Phe175Val
ENST00000427473.2:c.346+510T>G	ENSP00000409707.2:n.346+510T>G
ENST00000472206.1:c.172+795T>G	ENSP00000417779.1:n.172+795T>G
ENST00000487393.1:n.110-1265T>G
NM_001037631.2:c.457+510T>G	NP_001032720.1:n.457+510T>G
NM_005214.4:c.523T>G	NP_005205.2:p.Phe175Val
XR_241294.1:n.663T>G
NM_001037631.3:c.457+510T>G	NP_001032720.1:n.457+510T>G
NM_005214.5:c.523T>G MANE Select	NP_005205.2:p.Phe175Val