Canonical Allele Identifier: CA350138857
Community Standard Title: NM_005214.5(CTLA4):c.458-1G>C
Gene: CTLA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203871377G>C , CM000664.2:g.203871377G>C GRCh38
NC_000002.11:g.204736100G>C , CM000664.1:g.204736100G>C GRCh37
NC_000002.10:g.204444345G>C NCBI36
NG_011502.1:g.8592G>C

Transcript Alleles

HGVS Amino-acid Change
NM_005214.5:c.458-1G>C MANE Select NP_005205.2:n.458-1G>C
ENST00000648405.2:c.458-1G>C MANE Select ENSP00000497102.1:n.458-1G>C
NM_001037631.2:c.457+444G>C NP_001032720.1:n.457+444G>C
NM_001037631.3:c.457+444G>C NP_001032720.1:n.457+444G>C
NM_005214.4:c.458-1G>C NP_005205.2:n.458-1G>C
ENST00000295854.10:c.457+444G>C ENSP00000295854.6:n.457+444G>C
ENST00000302823.7:c.458-1G>C ENSP00000303939.3:n.458-1G>C
ENST00000427473.2:c.346+444G>C ENSP00000409707.2:n.346+444G>C
ENST00000427473.3:n.491+444G>C
ENST00000472206.1:c.172+729G>C ENSP00000417779.1:n.172+729G>C
ENST00000487393.1:n.110-1331G>C
ENST00000650075.1:n.482-1G>C
ENST00000696049.1:c.458-1G>C ENSP00000512353.1:n.458-1G>C
ENST00000696479.1:c.530-1G>C ENSP00000512655.1:n.530-1G>C
XR_241294.1:n.598-1G>C