Canonical Allele Identifier: CA431122326

Gene: CTLA4

Linked Data

• ClinVar Variation Id: 510871
• ClinVar RCV Id: RCV000611223 ; RCV001860288
• dbSNP Id: rs1242260236
• gnomAD v2: 2-204735655-T-A
• gnomAD v4: 2-203870932-T-A
• MyVariant Identifiers: chr2:g.204735655T>A (hg19) ; chr2:g.203870932T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203870932T>A , CM000664.2:g.203870932T>A	GRCh38
NC_000002.11:g.204735655T>A , CM000664.1:g.204735655T>A	GRCh37
NC_000002.10:g.204443900T>A	NCBI36
NG_011502.1:g.8147T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.456T>A	ENSP00000512353.1:p.Ile152=
ENST00000696479.1:c.528T>A	ENSP00000512655.1:p.Ile176=
ENST00000427473.3:n.490T>A
ENST00000648405.2:c.456T>A MANE Select	ENSP00000497102.1:p.Ile152=
ENST00000650075.1:n.480T>A
ENST00000295854.10:c.456T>A	ENSP00000295854.6:p.Ile152=
ENST00000302823.7:c.456T>A	ENSP00000303939.3:p.Ile152=
ENST00000427473.2:c.345T>A	ENSP00000409707.2:p.Ile115=
ENST00000472206.1:c.172+284T>A	ENSP00000417779.1:n.172+284T>A
ENST00000487393.1:n.110-1776T>A
NM_001037631.2:c.456T>A	NP_001032720.1:p.Ile152=
NM_005214.4:c.456T>A	NP_005205.2:p.Ile152=
XR_241294.1:n.596T>A
NM_001037631.3:c.456T>A	NP_001032720.1:p.Ile152=
NM_005214.5:c.456T>A MANE Select	NP_005205.2:p.Ile152=