Canonical Allele Identifier: CA63788118

Gene: CTLA4

Linked Data

• ClinVar Variation Id: 546887
• ClinVar RCV Id: RCV000658896 ; RCV002534302
• dbSNP Id: rs963824682
• gnomAD v2: 2-204736158-C-T
• gnomAD v3: 2-203871435-C-T
• gnomAD v4: 2-203871435-C-T
• COSMIC: COSM1404691
• MyVariant Identifiers: chr2:g.204736158C>T (hg19) ; chr2:g.203871435C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871435C>T , CM000664.2:g.203871435C>T	GRCh38
NC_000002.11:g.204736158C>T , CM000664.1:g.204736158C>T	GRCh37
NC_000002.10:g.204444403C>T	NCBI36
NG_011502.1:g.8650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.507+8C>T	ENSP00000512353.1:n.507+8C>T
ENST00000696479.1:c.587C>T	ENSP00000512655.1:p.Ser196Leu
ENST00000427473.3:n.491+502C>T
ENST00000648405.2:c.515C>T MANE Select	ENSP00000497102.1:p.Ser172Leu
ENST00000650075.1:n.539C>T
ENST00000295854.10:c.457+502C>T	ENSP00000295854.6:n.457+502C>T
ENST00000302823.7:c.515C>T	ENSP00000303939.3:p.Ser172Leu
ENST00000427473.2:c.346+502C>T	ENSP00000409707.2:n.346+502C>T
ENST00000472206.1:c.172+787C>T	ENSP00000417779.1:n.172+787C>T
ENST00000487393.1:n.110-1273C>T
NM_001037631.2:c.457+502C>T	NP_001032720.1:n.457+502C>T
NM_005214.4:c.515C>T	NP_005205.2:p.Ser172Leu
XR_241294.1:n.655C>T
NM_001037631.3:c.457+502C>T	NP_001032720.1:n.457+502C>T
NM_005214.5:c.515C>T MANE Select	NP_005205.2:p.Ser172Leu