Canonical Allele Identifier: CA350138978
Gene: CTLA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203871432G>A , CM000664.2:g.203871432G>A GRCh38
NC_000002.11:g.204736155G>A , CM000664.1:g.204736155G>A GRCh37
NC_000002.10:g.204444400G>A NCBI36
NG_011502.1:g.8647G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696049.1:c.507+5G>A ENSP00000512353.1:n.507+5G>A
ENST00000696479.1:c.584G>A ENSP00000512655.1:p.Ser195Asn
ENST00000427473.3:n.491+499G>A
ENST00000648405.2:c.512G>A MANE Select ENSP00000497102.1:p.Ser171Asn
ENST00000650075.1:n.536G>A
ENST00000295854.10:c.457+499G>A ENSP00000295854.6:n.457+499G>A
ENST00000302823.7:c.512G>A ENSP00000303939.3:p.Ser171Asn
ENST00000427473.2:c.346+499G>A ENSP00000409707.2:n.346+499G>A
ENST00000472206.1:c.172+784G>A ENSP00000417779.1:n.172+784G>A
ENST00000487393.1:n.110-1276G>A
NM_001037631.2:c.457+499G>A NP_001032720.1:n.457+499G>A
NM_005214.4:c.512G>A NP_005205.2:p.Ser171Asn
XR_241294.1:n.652G>A
NM_001037631.3:c.457+499G>A NP_001032720.1:n.457+499G>A
NM_005214.5:c.512G>A MANE Select NP_005205.2:p.Ser171Asn