Canonical Allele Identifier: CA350138601

Gene: CTLA4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203870825C>T , CM000664.2:g.203870825C>T	GRCh38
NC_000002.11:g.204735548C>T , CM000664.1:g.204735548C>T	GRCh37
NC_000002.10:g.204443793C>T	NCBI36
NG_011502.1:g.8040C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005214.5:c.349C>T MANE Select	NP_005205.2:p.Gln117Ter
ENST00000648405.2:c.349C>T MANE Select	ENSP00000497102.1:p.Gln117Ter
NM_001037631.2:c.349C>T	NP_001032720.1:p.Gln117Ter
NM_001037631.3:c.349C>T	NP_001032720.1:p.Gln117Ter
NM_005214.4:c.349C>T	NP_005205.2:p.Gln117Ter
ENST00000295854.10:c.349C>T	ENSP00000295854.6:p.Gln117Ter
ENST00000302823.7:c.349C>T	ENSP00000303939.3:p.Gln117Ter
ENST00000427473.2:c.238C>T	ENSP00000409707.2:p.Gln80Ter
ENST00000427473.3:n.383C>T
ENST00000472206.1:c.172+177C>T	ENSP00000417779.1:n.172+177C>T
ENST00000487393.1:n.110-1883C>T
ENST00000650075.1:n.373C>T
ENST00000696049.1:c.349C>T	ENSP00000512353.1:p.Gln117Ter
ENST00000696479.1:c.421C>T	ENSP00000512655.1:p.Gln141Ter
XR_241294.1:n.489C>T