Canonical Allele Identifier: CA173992

Gene: CTLA4

Linked Data

• ClinVar Variation Id: 161109
• ClinVar RCV Id: RCV000148290 ; RCV000788671 ; RCV002515995
• dbSNP Id: rs606231417
• MyVariant Identifiers: chr2:g.204735350C>T (hg19) ; chr2:g.203870627C>T (hg38)
• PubMed: PMID:25213377

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203870627C>T , CM000664.2:g.203870627C>T	GRCh38
NC_000002.11:g.204735350C>T , CM000664.1:g.204735350C>T	GRCh37
NC_000002.10:g.204443595C>T	NCBI36
NG_011502.1:g.7842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.151C>T	ENSP00000512353.1:p.Arg51Ter
ENST00000696479.1:c.223C>T	ENSP00000512655.1:p.Arg75Ter
ENST00000427473.3:n.185C>T
ENST00000648405.2:c.151C>T MANE Select	ENSP00000497102.1:p.Arg51Ter
ENST00000650075.1:n.175C>T
ENST00000295854.10:c.151C>T	ENSP00000295854.6:p.Arg51Ter
ENST00000302823.7:c.151C>T	ENSP00000303939.3:p.Arg51Ter
ENST00000427473.2:c.40C>T	ENSP00000409707.2:p.Arg14Ter
ENST00000472206.1:c.151C>T	ENSP00000417779.1:p.Arg51Ter
ENST00000487393.1:n.110-2081C>T
NM_001037631.2:c.151C>T	NP_001032720.1:p.Arg51Ter
NM_005214.4:c.151C>T	NP_005205.2:p.Arg51Ter
XR_241294.1:n.291C>T
NM_001037631.3:c.151C>T	NP_001032720.1:p.Arg51Ter
NM_005214.5:c.151C>T MANE Select	NP_005205.2:p.Arg51Ter