Canonical Allele Identifier: CA1226084
Gene: CD247 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.167439433C>T
GRCh37 chr1:g.167408670C>T
gnomAD v2:
1:167408670 C / T
gnomAD v3:
1:167439433 C / T
gnomAD v4:
chr1-167439433-C-T
Joint Max Group AF 0.46238986 (MID)
Genomes Max Group AF 0.39915898 (NFE)
Exomes Max Group AF 0.46086747 (MID)
ClinVar RCV:
RCV001536192
RCV003399336
ClinVar Variation:
1179252
dbSNP:
840016
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.167439433C>T , CM000663.2:g.167439433C>T GRCh38
NC_000001.10:g.167408670C>T , CM000663.1:g.167408670C>T GRCh37
NC_000001.9:g.165675294C>T NCBI36
NG_007384.1:g.84177G>A , LRG_36:g.84177G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392122.4:c.163-33G>A ENSP00000375969.3:n.163-33G>A
ENST00000470379.2:c.-156G>A ENSP00000514807.1:n.-156G>A
ENST00000476733.6:c.-156G>A ENSP00000514806.1:n.-156G>A
ENST00000483825.6:n.227-33G>A
ENST00000700105.1:c.163-33G>A ENSP00000514800.1:n.163-33G>A
ENST00000700106.1:c.187-33G>A ENSP00000514802.1:n.187-33G>A
ENST00000700107.1:c.187-33G>A ENSP00000514803.1:n.187-33G>A
ENST00000700108.1:c.-123-33G>A ENSP00000514804.1:n.-123-33G>A
ENST00000700109.1:c.-123-33G>A ENSP00000514805.1:n.-123-33G>A
ENST00000700111.1:n.227-33G>A
ENST00000700112.1:n.501-33G>A
ENST00000700113.1:c.*444-33G>A ENSP00000514838.1:n.*444-33G>A
ENST00000700134.1:c.163-33G>A ENSP00000514822.1:n.163-33G>A
ENST00000700135.1:n.654-33G>A
ENST00000700137.1:n.388-33G>A
ENST00000700138.1:n.189-33G>A
ENST00000700139.1:n.288-33G>A
ENST00000700140.1:n.248-33G>A
ENST00000700141.1:n.248-33G>A
ENST00000700142.1:c.163-33G>A ENSP00000514823.1:n.163-33G>A
ENST00000700143.1:n.127-33G>A
ENST00000700155.1:c.-156G>A ENSP00000514827.1:n.-156G>A
ENST00000700156.1:c.-123-33G>A ENSP00000514828.1:n.-123-33G>A
ENST00000700157.1:c.7-33G>A ENSP00000514829.1:n.7-33G>A
ENST00000700158.1:c.-123-33G>A ENSP00000514830.1:n.-123-33G>A
ENST00000700159.1:c.163-33G>A ENSP00000514831.1:n.163-33G>A
ENST00000700160.1:c.-123-33G>A ENSP00000514832.1:n.-123-33G>A
ENST00000700161.1:c.-156G>A ENSP00000514833.1:n.-156G>A
ENST00000700165.1:c.163-33G>A ENSP00000514836.1:n.163-33G>A
ENST00000700166.1:n.159-33G>A
ENST00000700167.1:c.163-33G>A ENSP00000514837.1:n.163-33G>A
ENST00000362089.10:c.163-33G>A MANE Select ENSP00000354782.5:n.163-33G>A
ENST00000362089.9:c.163-33G>A ENSP00000354782.5:n.163-33G>A
ENST00000392122.3:c.163-33G>A ENSP00000375969.3:n.163-33G>A
ENST00000470379.1:n.208G>A
ENST00000476733.5:n.189G>A
ENST00000483825.5:n.227-33G>A
NM_000734.3:c.163-33G>A NP_000725.1:n.163-33G>A
NM_198053.2:c.163-33G>A , LRG_36t1:c.163-33G>A NP_932170.1:n.163-33G>A
XM_011510144.1:c.187-33G>A XP_011508446.1:n.187-33G>A
XM_011510145.1:c.187-33G>A XP_011508447.1:n.187-33G>A
XM_011510144.2:c.187-33G>A XP_011508446.1:n.187-33G>A
XM_017002800.1:c.256-33G>A XP_016858289.1:n.256-33G>A
XM_017002801.1:c.256-33G>A XP_016858290.1:n.256-33G>A
NM_000734.4:c.163-33G>A NP_000725.1:n.163-33G>A
NM_001378515.1:c.256-33G>A NP_001365444.1:n.256-33G>A
NM_001378516.1:c.256-33G>A NP_001365445.1:n.256-33G>A
NM_198053.3:c.163-33G>A MANE Select NP_932170.1:n.163-33G>A
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