Canonical Allele Identifier: CA350138293

Gene: CTLA4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203870685G>A , CM000664.2:g.203870685G>A	GRCh38
NC_000002.11:g.204735408G>A , CM000664.1:g.204735408G>A	GRCh37
NC_000002.10:g.204443653G>A	NCBI36
NG_011502.1:g.7900G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005214.5:c.209G>A MANE Select	NP_005205.2:p.Arg70Gln
ENST00000648405.2:c.209G>A MANE Select	ENSP00000497102.1:p.Arg70Gln
NM_001037631.2:c.209G>A	NP_001032720.1:p.Arg70Gln
NM_001037631.3:c.209G>A	NP_001032720.1:p.Arg70Gln
NM_005214.4:c.209G>A	NP_005205.2:p.Arg70Gln
ENST00000295854.10:c.209G>A	ENSP00000295854.6:p.Arg70Gln
ENST00000302823.7:c.209G>A	ENSP00000303939.3:p.Arg70Gln
ENST00000427473.2:c.98G>A	ENSP00000409707.2:p.Arg33Gln
ENST00000427473.3:n.243G>A
ENST00000472206.1:c.172+37G>A	ENSP00000417779.1:n.172+37G>A
ENST00000487393.1:n.110-2023G>A
ENST00000650075.1:n.233G>A
ENST00000696049.1:c.209G>A	ENSP00000512353.1:p.Arg70Gln
ENST00000696479.1:c.281G>A	ENSP00000512655.1:p.Arg94Gln
XR_241294.1:n.349G>A