Canonical Allele Identifier: CA539148807

Gene: CTLA4

Linked Data

• dbSNP Id: rs1363317697
• gnomAD v2: 2-204732648-C-A
• gnomAD v4: 2-203867925-C-A
• MyVariant Identifiers: chr2:g.204732648C>A (hg19) ; chr2:g.203867925C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203867925C>A , CM000664.2:g.203867925C>A	GRCh38
NC_000002.11:g.204732648C>A , CM000664.1:g.204732648C>A	GRCh37
NC_000002.10:g.204440893C>A	NCBI36
NG_011502.1:g.5140C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696049.1:c.-18C>A	ENSP00000512353.1:n.-18C>A
ENST00000696479.1:c.55C>A	ENSP00000512655.1:p.His19Asn
ENST00000648405.2:c.-18C>A MANE Select	ENSP00000497102.1:n.-18C>A
ENST00000302823.7:c.-18C>A	ENSP00000303939.3:n.-18C>A
NM_001037631.2:c.-18C>A	NP_001032720.1:n.-18C>A
NM_005214.4:c.-18C>A	NP_005205.2:n.-18C>A
XR_241294.1:n.123C>A
NM_001037631.3:c.-18C>A	NP_001032720.1:n.-18C>A
NM_005214.5:c.-18C>A MANE Select	NP_005205.2:n.-18C>A