Canonical Allele Identifier: CA350138320

Gene: CTLA4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203870699C>T , CM000664.2:g.203870699C>T	GRCh38
NC_000002.11:g.204735422C>T , CM000664.1:g.204735422C>T	GRCh37
NC_000002.10:g.204443667C>T	NCBI36
NG_011502.1:g.7914C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005214.5:c.223C>T MANE Select	NP_005205.2:p.Arg75Trp
ENST00000648405.2:c.223C>T MANE Select	ENSP00000497102.1:p.Arg75Trp
NM_001037631.2:c.223C>T	NP_001032720.1:p.Arg75Trp
NM_001037631.3:c.223C>T	NP_001032720.1:p.Arg75Trp
NM_005214.4:c.223C>T	NP_005205.2:p.Arg75Trp
ENST00000295854.10:c.223C>T	ENSP00000295854.6:p.Arg75Trp
ENST00000302823.7:c.223C>T	ENSP00000303939.3:p.Arg75Trp
ENST00000427473.2:c.112C>T	ENSP00000409707.2:p.Arg38Trp
ENST00000427473.3:n.257C>T
ENST00000472206.1:c.172+51C>T	ENSP00000417779.1:n.172+51C>T
ENST00000487393.1:n.110-2009C>T
ENST00000650075.1:n.247C>T
ENST00000696049.1:c.223C>T	ENSP00000512353.1:p.Arg75Trp
ENST00000696479.1:c.295C>T	ENSP00000512655.1:p.Arg99Trp
XR_241294.1:n.363C>T