Canonical Allele Identifier: CA350139064

Gene: CTLA4

Linked Data

• dbSNP Id: rs1688731774
• MyVariant Identifiers: chr2:g.204736193G>C (hg19) ; chr2:g.203871470G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.507+43G>C	ENSP00000512353.1:n.507+43G>C
ENST00000696479.1:c.622G>C	ENSP00000512655.1:p.Val208Leu
ENST00000427473.3:n.491+537G>C
ENST00000648405.2:c.550G>C MANE Select	ENSP00000497102.1:p.Val184Leu
ENST00000650075.1:n.574G>C
ENST00000295854.10:c.457+537G>C	ENSP00000295854.6:n.457+537G>C
ENST00000302823.7:c.550G>C	ENSP00000303939.3:p.Val184Leu
ENST00000427473.2:c.346+537G>C	ENSP00000409707.2:n.346+537G>C
ENST00000472206.1:c.172+822G>C	ENSP00000417779.1:n.172+822G>C
ENST00000487393.1:n.110-1238G>C
NM_001037631.2:c.457+537G>C	NP_001032720.1:n.457+537G>C
NM_005214.4:c.550G>C	NP_005205.2:p.Val184Leu
XR_241294.1:n.690G>C
NM_001037631.3:c.457+537G>C	NP_001032720.1:n.457+537G>C
NM_005214.5:c.550G>C MANE Select	NP_005205.2:p.Val184Leu