Canonical Allele Identifier: CA539148808

Gene: CTLA4

Linked Data

• dbSNP Id: rs1360685408
• gnomAD v2: 2-204732651-C-T
• gnomAD v3: 2-203867928-C-T
• gnomAD v4: 2-203867928-C-T
• MyVariant Identifiers: chr2:g.204732651C>T (hg19) ; chr2:g.203867928C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203867928C>T , CM000664.2:g.203867928C>T	GRCh38
NC_000002.11:g.204732651C>T , CM000664.1:g.204732651C>T	GRCh37
NC_000002.10:g.204440896C>T	NCBI36
NG_011502.1:g.5143C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696049.1:c.-15C>T	ENSP00000512353.1:n.-15C>T
ENST00000696479.1:c.58C>T	ENSP00000512655.1:p.Arg20Cys
ENST00000648405.2:c.-15C>T MANE Select	ENSP00000497102.1:n.-15C>T
ENST00000302823.7:c.-15C>T	ENSP00000303939.3:n.-15C>T
NM_001037631.2:c.-15C>T	NP_001032720.1:n.-15C>T
NM_005214.4:c.-15C>T	NP_005205.2:n.-15C>T
XR_241294.1:n.126C>T
NM_001037631.3:c.-15C>T	NP_001032720.1:n.-15C>T
NM_005214.5:c.-15C>T MANE Select	NP_005205.2:n.-15C>T