Canonical Allele Identifier: CA350139095
Gene: CTLA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203871485A>C , CM000664.2:g.203871485A>C GRCh38
NC_000002.11:g.204736208A>C , CM000664.1:g.204736208A>C GRCh37
NC_000002.10:g.204444453A>C NCBI36
NG_011502.1:g.8700A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696049.1:c.507+58A>C ENSP00000512353.1:n.507+58A>C
ENST00000696479.1:c.637A>C ENSP00000512655.1:p.Met213Leu
ENST00000427473.3:n.491+552A>C
ENST00000648405.2:c.565A>C MANE Select ENSP00000497102.1:p.Met189Leu
ENST00000650075.1:n.589A>C
ENST00000295854.10:c.457+552A>C ENSP00000295854.6:n.457+552A>C
ENST00000302823.7:c.565A>C ENSP00000303939.3:p.Met189Leu
ENST00000427473.2:c.346+552A>C ENSP00000409707.2:n.346+552A>C
ENST00000472206.1:c.172+837A>C ENSP00000417779.1:n.172+837A>C
ENST00000487393.1:n.110-1223A>C
NM_001037631.2:c.457+552A>C NP_001032720.1:n.457+552A>C
NM_005214.4:c.565A>C NP_005205.2:p.Met189Leu
XR_241294.1:n.705A>C
NM_001037631.3:c.457+552A>C NP_001032720.1:n.457+552A>C
NM_005214.5:c.565A>C MANE Select NP_005205.2:p.Met189Leu