Canonical Allele Identifier: CA350138326
Community Standard Title: NM_005214.5(CTLA4):c.226C>T (p.Gln76Ter)
Gene: CTLA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203870702C>T , CM000664.2:g.203870702C>T GRCh38
NC_000002.11:g.204735425C>T , CM000664.1:g.204735425C>T GRCh37
NC_000002.10:g.204443670C>T NCBI36
NG_011502.1:g.7917C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005214.5:c.226C>T MANE Select NP_005205.2:p.Gln76Ter
ENST00000648405.2:c.226C>T MANE Select ENSP00000497102.1:p.Gln76Ter
NM_001037631.2:c.226C>T NP_001032720.1:p.Gln76Ter
NM_001037631.3:c.226C>T NP_001032720.1:p.Gln76Ter
NM_005214.4:c.226C>T NP_005205.2:p.Gln76Ter
ENST00000295854.10:c.226C>T ENSP00000295854.6:p.Gln76Ter
ENST00000302823.7:c.226C>T ENSP00000303939.3:p.Gln76Ter
ENST00000427473.2:c.115C>T ENSP00000409707.2:p.Gln39Ter
ENST00000427473.3:n.260C>T
ENST00000472206.1:c.172+54C>T ENSP00000417779.1:n.172+54C>T
ENST00000487393.1:n.110-2006C>T
ENST00000650075.1:n.250C>T
ENST00000696049.1:c.226C>T ENSP00000512353.1:p.Gln76Ter
ENST00000696479.1:c.298C>T ENSP00000512655.1:p.Gln100Ter
XR_241294.1:n.366C>T