Canonical Allele Identifier: CA431020651

Gene: CTLA4

Linked Data

• ClinVar Variation Id: 2840995
• ClinVar RCV Id: RCV003750102
• dbSNP Id: rs1688731505
• gnomAD v3: 2-203871463-C-T
• gnomAD v4: 2-203871463-C-T
• MyVariant Identifiers: chr2:g.204736186C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871463C>T , CM000664.2:g.203871463C>T	GRCh38
NC_000002.11:g.204736186C>T , CM000664.1:g.204736186C>T	GRCh37
NC_000002.10:g.204444431C>T	NCBI36
NG_011502.1:g.8678C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.507+36C>T	ENSP00000512353.1:n.507+36C>T
ENST00000696479.1:c.615C>T	ENSP00000512655.1:p.Leu205=
ENST00000427473.3:n.491+530C>T
ENST00000648405.2:c.543C>T MANE Select	ENSP00000497102.1:p.Leu181=
ENST00000650075.1:n.567C>T
ENST00000295854.10:c.457+530C>T	ENSP00000295854.6:n.457+530C>T
ENST00000302823.7:c.543C>T	ENSP00000303939.3:p.Leu181=
ENST00000427473.2:c.346+530C>T	ENSP00000409707.2:n.346+530C>T
ENST00000472206.1:c.172+815C>T	ENSP00000417779.1:n.172+815C>T
ENST00000487393.1:n.110-1245C>T
NM_001037631.2:c.457+530C>T	NP_001032720.1:n.457+530C>T
NM_005214.4:c.543C>T	NP_005205.2:p.Leu181=
XR_241294.1:n.683C>T
NM_001037631.3:c.457+530C>T	NP_001032720.1:n.457+530C>T
NM_005214.5:c.543C>T MANE Select	NP_005205.2:p.Leu181=