Canonical Allele Identifier: CA350138911

Gene: CTLA4

Linked Data

• ClinVar Variation Id: 1425050
• ClinVar RCV Id: RCV001957321
• dbSNP Id: rs2105776000
• MyVariant Identifiers: chr2:g.204736125A>C (hg19) ; chr2:g.203871402A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871402A>C , CM000664.2:g.203871402A>C	GRCh38
NC_000002.11:g.204736125A>C , CM000664.1:g.204736125A>C	GRCh37
NC_000002.10:g.204444370A>C	NCBI36
NG_011502.1:g.8617A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.482A>C	ENSP00000512353.1:p.Asp161Ala
ENST00000696479.1:c.554A>C	ENSP00000512655.1:p.Asp185Ala
ENST00000427473.3:n.491+469A>C
ENST00000648405.2:c.482A>C MANE Select	ENSP00000497102.1:p.Asp161Ala
ENST00000650075.1:n.506A>C
ENST00000295854.10:c.457+469A>C	ENSP00000295854.6:n.457+469A>C
ENST00000302823.7:c.482A>C	ENSP00000303939.3:p.Asp161Ala
ENST00000427473.2:c.346+469A>C	ENSP00000409707.2:n.346+469A>C
ENST00000472206.1:c.172+754A>C	ENSP00000417779.1:n.172+754A>C
ENST00000487393.1:n.110-1306A>C
NM_001037631.2:c.457+469A>C	NP_001032720.1:n.457+469A>C
NM_005214.4:c.482A>C	NP_005205.2:p.Asp161Ala
XR_241294.1:n.622A>C
NM_001037631.3:c.457+469A>C	NP_001032720.1:n.457+469A>C
NM_005214.5:c.482A>C MANE Select	NP_005205.2:p.Asp161Ala