Canonical Allele Identifier: CA2067088
Gene: CTLA4 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.203870802G>A
GRCh37 chr2:g.204735525G>A
Revel Score:
ENST00000302823 0.026
ENST00000295854 0.026
ENST00000427473 0.026
gnomAD v2:
2:204735525 G / A
gnomAD v3:
2:203870802 G / A
gnomAD v4:
chr2-203870802-G-A
Joint Max Group AF 0.00139579 (MID)
Genomes Max Group AF 0.00025539 (NFE)
Exomes Max Group AF 0.0014666 (MID)
ClinVar RCV:
RCV000652447
RCV003437383
ClinVar Variation:
542071
dbSNP:
144988077
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203870802G>A , CM000664.2:g.203870802G>A GRCh38
NC_000002.11:g.204735525G>A , CM000664.1:g.204735525G>A GRCh37
NC_000002.10:g.204443770G>A NCBI36
NG_011502.1:g.8017G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696049.1:c.326G>A ENSP00000512353.1:p.Gly109Glu
ENST00000696479.1:c.398G>A ENSP00000512655.1:p.Gly133Glu
ENST00000427473.3:n.360G>A
ENST00000648405.2:c.326G>A MANE Select ENSP00000497102.1:p.Gly109Glu
ENST00000650075.1:n.350G>A
ENST00000295854.10:c.326G>A ENSP00000295854.6:p.Gly109Glu
ENST00000302823.7:c.326G>A ENSP00000303939.3:p.Gly109Glu
ENST00000427473.2:c.215G>A ENSP00000409707.2:p.Gly72Glu
ENST00000472206.1:c.172+154G>A ENSP00000417779.1:n.172+154G>A
ENST00000487393.1:n.110-1906G>A
NM_001037631.2:c.326G>A NP_001032720.1:p.Gly109Glu
NM_005214.4:c.326G>A NP_005205.2:p.Gly109Glu
XR_241294.1:n.466G>A
NM_001037631.3:c.326G>A NP_001032720.1:p.Gly109Glu
NM_005214.5:c.326G>A MANE Select NP_005205.2:p.Gly109Glu
Search 100 bp 5'
Search 100 bp 3'