Canonical Allele Identifier: CA539148806

Gene: CTLA4

Linked Data

• dbSNP Id: rs1424391323
• gnomAD v2: 2-204732643-C-G
• gnomAD v4: 2-203867920-C-G
• MyVariant Identifiers: chr2:g.204732643C>G (hg19) ; chr2:g.203867920C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203867920C>G , CM000664.2:g.203867920C>G	GRCh38
NC_000002.11:g.204732643C>G , CM000664.1:g.204732643C>G	GRCh37
NC_000002.10:g.204440888C>G	NCBI36
NG_011502.1:g.5135C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696049.1:c.-23C>G	ENSP00000512353.1:n.-23C>G
ENST00000696479.1:c.50C>G	ENSP00000512655.1:p.Pro17Arg
ENST00000648405.2:c.-23C>G MANE Select	ENSP00000497102.1:n.-23C>G
ENST00000302823.7:c.-23C>G	ENSP00000303939.3:n.-23C>G
NM_001037631.2:c.-23C>G	NP_001032720.1:n.-23C>G
NM_005214.4:c.-23C>G	NP_005205.2:n.-23C>G
XR_241294.1:n.118C>G
NM_001037631.3:c.-23C>G	NP_001032720.1:n.-23C>G
NM_005214.5:c.-23C>G MANE Select	NP_005205.2:n.-23C>G