Canonical Allele Identifier: CA350139062

Gene: CTLA4

Linked Data

• gnomAD v4: 2-203871468-C-G
• MyVariant Identifiers: chr2:g.204736191C>G (hg19) ; chr2:g.203871468C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871468C>G , CM000664.2:g.203871468C>G	GRCh38
NC_000002.11:g.204736191C>G , CM000664.1:g.204736191C>G	GRCh37
NC_000002.10:g.204444436C>G	NCBI36
NG_011502.1:g.8683C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.507+41C>G	ENSP00000512353.1:n.507+41C>G
ENST00000696479.1:c.620C>G	ENSP00000512655.1:p.Ala207Gly
ENST00000427473.3:n.491+535C>G
ENST00000648405.2:c.548C>G MANE Select	ENSP00000497102.1:p.Ala183Gly
ENST00000650075.1:n.572C>G
ENST00000295854.10:c.457+535C>G	ENSP00000295854.6:n.457+535C>G
ENST00000302823.7:c.548C>G	ENSP00000303939.3:p.Ala183Gly
ENST00000427473.2:c.346+535C>G	ENSP00000409707.2:n.346+535C>G
ENST00000472206.1:c.172+820C>G	ENSP00000417779.1:n.172+820C>G
ENST00000487393.1:n.110-1240C>G
NM_001037631.2:c.457+535C>G	NP_001032720.1:n.457+535C>G
NM_005214.4:c.548C>G	NP_005205.2:p.Ala183Gly
XR_241294.1:n.688C>G
NM_001037631.3:c.457+535C>G	NP_001032720.1:n.457+535C>G
NM_005214.5:c.548C>G MANE Select	NP_005205.2:p.Ala183Gly