Canonical Allele Identifier: CA350138762

Gene: CTLA4

Linked Data

• ClinVar Variation Id: 475277
• ClinVar RCV Id: RCV000529257
• dbSNP Id: rs1357409506
• MyVariant Identifiers: chr2:g.204735619C>A (hg19) ; chr2:g.203870896C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203870896C>A , CM000664.2:g.203870896C>A	GRCh38
NC_000002.11:g.204735619C>A , CM000664.1:g.204735619C>A	GRCh37
NC_000002.10:g.204443864C>A	NCBI36
NG_011502.1:g.8111C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.420C>A	ENSP00000512353.1:p.Tyr140Ter
ENST00000696479.1:c.492C>A	ENSP00000512655.1:p.Tyr164Ter
ENST00000427473.3:n.454C>A
ENST00000648405.2:c.420C>A MANE Select	ENSP00000497102.1:p.Tyr140Ter
ENST00000650075.1:n.444C>A
ENST00000295854.10:c.420C>A	ENSP00000295854.6:p.Tyr140Ter
ENST00000302823.7:c.420C>A	ENSP00000303939.3:p.Tyr140Ter
ENST00000427473.2:c.309C>A	ENSP00000409707.2:p.Tyr103Ter
ENST00000472206.1:c.172+248C>A	ENSP00000417779.1:n.172+248C>A
ENST00000487393.1:n.110-1812C>A
NM_001037631.2:c.420C>A	NP_001032720.1:p.Tyr140Ter
NM_005214.4:c.420C>A	NP_005205.2:p.Tyr140Ter
XR_241294.1:n.560C>A
NM_001037631.3:c.420C>A	NP_001032720.1:p.Tyr140Ter
NM_005214.5:c.420C>A MANE Select	NP_005205.2:p.Tyr140Ter