Canonical Allele Identifier: CA350138926

Gene: CTLA4

Linked Data

• ClinVar Variation Id: 2186394
• ClinVar RCV Id: RCV002606607
• dbSNP Id: rs1581574315
• gnomAD v3: 2-203871407-C-T
• gnomAD v4: 2-203871407-C-T
• MyVariant Identifiers: chr2:g.204736130C>T (hg19) ; chr2:g.203871407C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871407C>T , CM000664.2:g.203871407C>T	GRCh38
NC_000002.11:g.204736130C>T , CM000664.1:g.204736130C>T	GRCh37
NC_000002.10:g.204444375C>T	NCBI36
NG_011502.1:g.8622C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.487C>T	ENSP00000512353.1:p.Leu163Phe
ENST00000696479.1:c.559C>T	ENSP00000512655.1:p.Leu187Phe
ENST00000427473.3:n.491+474C>T
ENST00000648405.2:c.487C>T MANE Select	ENSP00000497102.1:p.Leu163Phe
ENST00000650075.1:n.511C>T
ENST00000295854.10:c.457+474C>T	ENSP00000295854.6:n.457+474C>T
ENST00000302823.7:c.487C>T	ENSP00000303939.3:p.Leu163Phe
ENST00000427473.2:c.346+474C>T	ENSP00000409707.2:n.346+474C>T
ENST00000472206.1:c.172+759C>T	ENSP00000417779.1:n.172+759C>T
ENST00000487393.1:n.110-1301C>T
NM_001037631.2:c.457+474C>T	NP_001032720.1:n.457+474C>T
NM_005214.4:c.487C>T	NP_005205.2:p.Leu163Phe
XR_241294.1:n.627C>T
NM_001037631.3:c.457+474C>T	NP_001032720.1:n.457+474C>T
NM_005214.5:c.487C>T MANE Select	NP_005205.2:p.Leu163Phe