Canonical Allele Identifier: CA350138355
Community Standard Title: NM_005214.5(CTLA4):c.238C>T (p.Gln80Ter)
Gene: CTLA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203870714C>T , CM000664.2:g.203870714C>T GRCh38
NC_000002.11:g.204735437C>T , CM000664.1:g.204735437C>T GRCh37
NC_000002.10:g.204443682C>T NCBI36
NG_011502.1:g.7929C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005214.5:c.238C>T MANE Select NP_005205.2:p.Gln80Ter
ENST00000648405.2:c.238C>T MANE Select ENSP00000497102.1:p.Gln80Ter
NM_001037631.2:c.238C>T NP_001032720.1:p.Gln80Ter
NM_001037631.3:c.238C>T NP_001032720.1:p.Gln80Ter
NM_005214.4:c.238C>T NP_005205.2:p.Gln80Ter
ENST00000295854.10:c.238C>T ENSP00000295854.6:p.Gln80Ter
ENST00000302823.7:c.238C>T ENSP00000303939.3:p.Gln80Ter
ENST00000427473.2:c.127C>T ENSP00000409707.2:p.Gln43Ter
ENST00000427473.3:n.272C>T
ENST00000472206.1:c.172+66C>T ENSP00000417779.1:n.172+66C>T
ENST00000487393.1:n.110-1994C>T
ENST00000650075.1:n.262C>T
ENST00000696049.1:c.238C>T ENSP00000512353.1:p.Gln80Ter
ENST00000696479.1:c.310C>T ENSP00000512655.1:p.Gln104Ter
XR_241294.1:n.378C>T