Canonical Allele Identifier: CA350139043
Gene: CTLA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203871459T>G , CM000664.2:g.203871459T>G GRCh38
NC_000002.11:g.204736182T>G , CM000664.1:g.204736182T>G GRCh37
NC_000002.10:g.204444427T>G NCBI36
NG_011502.1:g.8674T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696049.1:c.507+32T>G ENSP00000512353.1:n.507+32T>G
ENST00000696479.1:c.611T>G ENSP00000512655.1:p.Leu204Arg
ENST00000427473.3:n.491+526T>G
ENST00000648405.2:c.539T>G MANE Select ENSP00000497102.1:p.Leu180Arg
ENST00000650075.1:n.563T>G
ENST00000295854.10:c.457+526T>G ENSP00000295854.6:n.457+526T>G
ENST00000302823.7:c.539T>G ENSP00000303939.3:p.Leu180Arg
ENST00000427473.2:c.346+526T>G ENSP00000409707.2:n.346+526T>G
ENST00000472206.1:c.172+811T>G ENSP00000417779.1:n.172+811T>G
ENST00000487393.1:n.110-1249T>G
NM_001037631.2:c.457+526T>G NP_001032720.1:n.457+526T>G
NM_005214.4:c.539T>G NP_005205.2:p.Leu180Arg
XR_241294.1:n.679T>G
NM_001037631.3:c.457+526T>G NP_001032720.1:n.457+526T>G
NM_005214.5:c.539T>G MANE Select NP_005205.2:p.Leu180Arg