Canonical Allele Identifier: CA350138101

Gene: CTLA4

Linked Data

• ClinVar Variation Id: 430906
• ClinVar RCV Id: RCV000604644 ; RCV000788529
• dbSNP Id: rs1553657378
• MyVariant Identifiers: chr2:g.204735317G>A (hg19) ; chr2:g.203870594G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203870594G>A , CM000664.2:g.203870594G>A	GRCh38
NC_000002.11:g.204735317G>A , CM000664.1:g.204735317G>A	GRCh37
NC_000002.10:g.204443562G>A	NCBI36
NG_011502.1:g.7809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.118G>A	ENSP00000512353.1:p.Val40Met
ENST00000696479.1:c.190G>A	ENSP00000512655.1:p.Val64Met
ENST00000427473.3:n.152G>A
ENST00000648405.2:c.118G>A MANE Select	ENSP00000497102.1:p.Val40Met
ENST00000650075.1:n.142G>A
ENST00000295854.10:c.118G>A	ENSP00000295854.6:p.Val40Met
ENST00000302823.7:c.118G>A	ENSP00000303939.3:p.Val40Met
ENST00000427473.2:c.7G>A	ENSP00000409707.2:p.Val3Met
ENST00000472206.1:c.118G>A	ENSP00000417779.1:p.Val40Met
ENST00000487393.1:n.110-2114G>A
NM_001037631.2:c.118G>A	NP_001032720.1:p.Val40Met
NM_005214.4:c.118G>A	NP_005205.2:p.Val40Met
XR_241294.1:n.258G>A
NM_001037631.3:c.118G>A	NP_001032720.1:p.Val40Met
NM_005214.5:c.118G>A MANE Select	NP_005205.2:p.Val40Met