Canonical Allele Identifier: CA350139063

Gene: CTLA4

Linked Data

• MyVariant Identifiers: chr2:g.204736193G>A (hg19) ; chr2:g.203871470G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871470G>A , CM000664.2:g.203871470G>A	GRCh38
NC_000002.11:g.204736193G>A , CM000664.1:g.204736193G>A	GRCh37
NC_000002.10:g.204444438G>A	NCBI36
NG_011502.1:g.8685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.507+43G>A	ENSP00000512353.1:n.507+43G>A
ENST00000696479.1:c.622G>A	ENSP00000512655.1:p.Val208Ile
ENST00000427473.3:n.491+537G>A
ENST00000648405.2:c.550G>A MANE Select	ENSP00000497102.1:p.Val184Ile
ENST00000650075.1:n.574G>A
ENST00000295854.10:c.457+537G>A	ENSP00000295854.6:n.457+537G>A
ENST00000302823.7:c.550G>A	ENSP00000303939.3:p.Val184Ile
ENST00000427473.2:c.346+537G>A	ENSP00000409707.2:n.346+537G>A
ENST00000472206.1:c.172+822G>A	ENSP00000417779.1:n.172+822G>A
ENST00000487393.1:n.110-1238G>A
NM_001037631.2:c.457+537G>A	NP_001032720.1:n.457+537G>A
NM_005214.4:c.550G>A	NP_005205.2:p.Val184Ile
XR_241294.1:n.690G>A
NM_001037631.3:c.457+537G>A	NP_001032720.1:n.457+537G>A
NM_005214.5:c.550G>A MANE Select	NP_005205.2:p.Val184Ile