Canonical Allele Identifier: CA350139027
Gene: CTLA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203871453G>T , CM000664.2:g.203871453G>T GRCh38
NC_000002.11:g.204736176G>T , CM000664.1:g.204736176G>T GRCh37
NC_000002.10:g.204444421G>T NCBI36
NG_011502.1:g.8668G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696049.1:c.507+26G>T ENSP00000512353.1:n.507+26G>T
ENST00000696479.1:c.605G>T ENSP00000512655.1:p.Ser202Ile
ENST00000427473.3:n.491+520G>T
ENST00000648405.2:c.533G>T MANE Select ENSP00000497102.1:p.Ser178Ile
ENST00000650075.1:n.557G>T
ENST00000295854.10:c.457+520G>T ENSP00000295854.6:n.457+520G>T
ENST00000302823.7:c.533G>T ENSP00000303939.3:p.Ser178Ile
ENST00000427473.2:c.346+520G>T ENSP00000409707.2:n.346+520G>T
ENST00000472206.1:c.172+805G>T ENSP00000417779.1:n.172+805G>T
ENST00000487393.1:n.110-1255G>T
NM_001037631.2:c.457+520G>T NP_001032720.1:n.457+520G>T
NM_005214.4:c.533G>T NP_005205.2:p.Ser178Ile
XR_241294.1:n.673G>T
NM_001037631.3:c.457+520G>T NP_001032720.1:n.457+520G>T
NM_005214.5:c.533G>T MANE Select NP_005205.2:p.Ser178Ile