Canonical Allele Identifier: CA13126962
Gene: TRAF1 HGNC NCBI
COSMIC:
COSN14763625 (not active)
COSN19710646 (not active)
MyVariant.info:
GRCh38 chr9:g.120914118G>C
GRCh37 chr9:g.123676396G>C
gnomAD v2:
9:123676396 G / C
gnomAD v3:
9:120914118 G / C
gnomAD v4:
chr9-120914118-G-C
Joint Max Group AF 0.69113233 (SAS)
Genomes Max Group AF 0.67559205 (SAS)
Exomes Max Group AF 0.69111909 (SAS)
dbSNP:
2416804
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120914118G>C , CM000671.2:g.120914118G>C GRCh38
NC_000009.11:g.123676396G>C , CM000671.1:g.123676396G>C GRCh37
NC_000009.10:g.122716217G>C NCBI36
NG_023346.1:g.20056C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373887.8:c.294+117C>G MANE Select ENSP00000362994.3:n.294+117C>G
ENST00000373887.7:c.294+117C>G ENSP00000362994.3:n.294+117C>G
ENST00000540010.1:c.294+117C>G ENSP00000443183.1:n.294+117C>G
ENST00000546084.5:c.-73+117C>G ENSP00000438583.1:n.-73+117C>G
NM_001190945.1:c.294+117C>G NP_001177874.1:n.294+117C>G
NM_001190947.1:c.-73+117C>G NP_001177876.1:n.-73+117C>G
NM_005658.4:c.294+117C>G NP_005649.1:n.294+117C>G
NM_005658.5:c.294+117C>G MANE Select NP_005649.1:n.294+117C>G
NM_001190945.2:c.294+117C>G NP_001177874.1:n.294+117C>G
NM_001190947.2:c.-73+117C>G NP_001177876.1:n.-73+117C>G
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