Canonical Allele Identifier: CA350138749

Gene: CTLA4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203870891T>C , CM000664.2:g.203870891T>C	GRCh38
NC_000002.11:g.204735614T>C , CM000664.1:g.204735614T>C	GRCh37
NC_000002.10:g.204443859T>C	NCBI36
NG_011502.1:g.8106T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005214.5:c.415T>C MANE Select	NP_005205.2:p.Tyr139His
ENST00000648405.2:c.415T>C MANE Select	ENSP00000497102.1:p.Tyr139His
NM_001037631.2:c.415T>C	NP_001032720.1:p.Tyr139His
NM_001037631.3:c.415T>C	NP_001032720.1:p.Tyr139His
NM_005214.4:c.415T>C	NP_005205.2:p.Tyr139His
ENST00000295854.10:c.415T>C	ENSP00000295854.6:p.Tyr139His
ENST00000302823.7:c.415T>C	ENSP00000303939.3:p.Tyr139His
ENST00000427473.2:c.304T>C	ENSP00000409707.2:p.Tyr102His
ENST00000427473.3:n.449T>C
ENST00000472206.1:c.172+243T>C	ENSP00000417779.1:n.172+243T>C
ENST00000487393.1:n.110-1817T>C
ENST00000650075.1:n.439T>C
ENST00000696049.1:c.415T>C	ENSP00000512353.1:p.Tyr139His
ENST00000696479.1:c.487T>C	ENSP00000512655.1:p.Tyr163His
XR_241294.1:n.555T>C