Canonical Allele Identifier: CA350139044

Gene: CTLA4

Linked Data

• ClinVar Variation Id: 973635
• ClinVar RCV Id: RCV001267756
• dbSNP Id: rs1688731438
• MyVariant Identifiers: chr2:g.204736182T>C (hg19) ; chr2:g.203871459T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871459T>C , CM000664.2:g.203871459T>C	GRCh38
NC_000002.11:g.204736182T>C , CM000664.1:g.204736182T>C	GRCh37
NC_000002.10:g.204444427T>C	NCBI36
NG_011502.1:g.8674T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.507+32T>C	ENSP00000512353.1:n.507+32T>C
ENST00000696479.1:c.611T>C	ENSP00000512655.1:p.Leu204Pro
ENST00000427473.3:n.491+526T>C
ENST00000648405.2:c.539T>C MANE Select	ENSP00000497102.1:p.Leu180Pro
ENST00000650075.1:n.563T>C
ENST00000295854.10:c.457+526T>C	ENSP00000295854.6:n.457+526T>C
ENST00000302823.7:c.539T>C	ENSP00000303939.3:p.Leu180Pro
ENST00000427473.2:c.346+526T>C	ENSP00000409707.2:n.346+526T>C
ENST00000472206.1:c.172+811T>C	ENSP00000417779.1:n.172+811T>C
ENST00000487393.1:n.110-1249T>C
NM_001037631.2:c.457+526T>C	NP_001032720.1:n.457+526T>C
NM_005214.4:c.539T>C	NP_005205.2:p.Leu180Pro
XR_241294.1:n.679T>C
NM_001037631.3:c.457+526T>C	NP_001032720.1:n.457+526T>C
NM_005214.5:c.539T>C MANE Select	NP_005205.2:p.Leu180Pro