Canonical Allele Identifier: CA350138997

Gene: CTLA4

Linked Data

• dbSNP Id: rs1688731136
• gnomAD v3: 2-203871441-T-A
• gnomAD v4: 2-203871441-T-A
• MyVariant Identifiers: chr2:g.204736164T>A (hg19) ; chr2:g.203871441T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871441T>A , CM000664.2:g.203871441T>A	GRCh38
NC_000002.11:g.204736164T>A , CM000664.1:g.204736164T>A	GRCh37
NC_000002.10:g.204444409T>A	NCBI36
NG_011502.1:g.8656T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.507+14T>A	ENSP00000512353.1:n.507+14T>A
ENST00000696479.1:c.593T>A	ENSP00000512655.1:p.Leu198Ter
ENST00000427473.3:n.491+508T>A
ENST00000648405.2:c.521T>A MANE Select	ENSP00000497102.1:p.Leu174Ter
ENST00000650075.1:n.545T>A
ENST00000295854.10:c.457+508T>A	ENSP00000295854.6:n.457+508T>A
ENST00000302823.7:c.521T>A	ENSP00000303939.3:p.Leu174Ter
ENST00000427473.2:c.346+508T>A	ENSP00000409707.2:n.346+508T>A
ENST00000472206.1:c.172+793T>A	ENSP00000417779.1:n.172+793T>A
ENST00000487393.1:n.110-1267T>A
NM_001037631.2:c.457+508T>A	NP_001032720.1:n.457+508T>A
NM_005214.4:c.521T>A	NP_005205.2:p.Leu174Ter
XR_241294.1:n.661T>A
NM_001037631.3:c.457+508T>A	NP_001032720.1:n.457+508T>A
NM_005214.5:c.521T>A MANE Select	NP_005205.2:p.Leu174Ter