Canonical Allele Identifier: CA350138843
Community Standard Title: NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn)
Gene: CTLA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203870933G>A , CM000664.2:g.203870933G>A GRCh38
NC_000002.11:g.204735656G>A , CM000664.1:g.204735656G>A GRCh37
NC_000002.10:g.204443901G>A NCBI36
NG_011502.1:g.8148G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005214.5:c.457G>A MANE Select NP_005205.2:p.Asp153Asn
ENST00000648405.2:c.457G>A MANE Select ENSP00000497102.1:p.Asp153Asn
NM_001037631.2:c.457G>A NP_001032720.1:p.Ala153Thr
NM_001037631.3:c.457G>A NP_001032720.1:p.Ala153Thr
NM_005214.4:c.457G>A NP_005205.2:p.Asp153Asn
ENST00000295854.10:c.457G>A ENSP00000295854.6:p.Ala153Thr
ENST00000302823.7:c.457G>A ENSP00000303939.3:p.Asp153Asn
ENST00000427473.2:c.346G>A ENSP00000409707.2:p.Ala116Thr
ENST00000427473.3:n.491G>A
ENST00000472206.1:c.172+285G>A ENSP00000417779.1:n.172+285G>A
ENST00000487393.1:n.110-1775G>A
ENST00000650075.1:n.481G>A
ENST00000696049.1:c.457G>A ENSP00000512353.1:p.Asp153Asn
ENST00000696479.1:c.529G>A ENSP00000512655.1:p.Asp177Asn
XR_241294.1:n.597G>A