Canonical Allele Identifier: CA350138954

Gene: CTLA4

Linked Data

• MyVariant Identifiers: chr2:g.204736143T>A (hg19) ; chr2:g.203871420T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871420T>A , CM000664.2:g.203871420T>A	GRCh38
NC_000002.11:g.204736143T>A , CM000664.1:g.204736143T>A	GRCh37
NC_000002.10:g.204444388T>A	NCBI36
NG_011502.1:g.8635T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.500T>A	ENSP00000512353.1:p.Leu167His
ENST00000696479.1:c.572T>A	ENSP00000512655.1:p.Leu191His
ENST00000427473.3:n.491+487T>A
ENST00000648405.2:c.500T>A MANE Select	ENSP00000497102.1:p.Leu167His
ENST00000650075.1:n.524T>A
ENST00000295854.10:c.457+487T>A	ENSP00000295854.6:n.457+487T>A
ENST00000302823.7:c.500T>A	ENSP00000303939.3:p.Leu167His
ENST00000427473.2:c.346+487T>A	ENSP00000409707.2:n.346+487T>A
ENST00000472206.1:c.172+772T>A	ENSP00000417779.1:n.172+772T>A
ENST00000487393.1:n.110-1288T>A
NM_001037631.2:c.457+487T>A	NP_001032720.1:n.457+487T>A
NM_005214.4:c.500T>A	NP_005205.2:p.Leu167His
XR_241294.1:n.640T>A
NM_001037631.3:c.457+487T>A	NP_001032720.1:n.457+487T>A
NM_005214.5:c.500T>A MANE Select	NP_005205.2:p.Leu167His