Canonical Allele Identifier: CA539149067

Gene: CTLA4

Linked Data

• dbSNP Id: rs1179296538
• gnomAD v2: 2-204734182-G-A
• gnomAD v3: 2-203869459-G-A
• gnomAD v4: 2-203869459-G-A
• MyVariant Identifiers: chr2:g.204734182G>A (hg19) ; chr2:g.203869459G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203869459G>A , CM000664.2:g.203869459G>A	GRCh38
NC_000002.11:g.204734182G>A , CM000664.1:g.204734182G>A	GRCh37
NC_000002.10:g.204442427G>A	NCBI36
NG_011502.1:g.6674G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.110-1127G>A	ENSP00000512353.1:n.110-1127G>A
ENST00000696479.1:c.182-1127G>A	ENSP00000512655.1:n.182-1127G>A
ENST00000648405.2:c.110-1127G>A MANE Select	ENSP00000497102.1:n.110-1127G>A
ENST00000295854.10:c.110-1127G>A	ENSP00000295854.6:n.110-1127G>A
ENST00000302823.7:c.110-1127G>A	ENSP00000303939.3:n.110-1127G>A
ENST00000472206.1:c.110-1127G>A	ENSP00000417779.1:n.110-1127G>A
ENST00000487393.1:n.109+1408G>A
NM_001037631.2:c.110-1127G>A	NP_001032720.1:n.110-1127G>A
NM_005214.4:c.110-1127G>A	NP_005205.2:n.110-1127G>A
XR_241294.1:n.250-1127G>A
NM_001037631.3:c.110-1127G>A	NP_001032720.1:n.110-1127G>A
NM_005214.5:c.110-1127G>A MANE Select	NP_005205.2:n.110-1127G>A