Canonical Allele Identifier: CA4620748
Gene: TNKS HGNC NCBI
COSMIC:
COSN17132765 (not active)
COSN17152163 (not active)
COSN26727827 (not active)
MyVariant.info:
GRCh38 chr8:g.9679917A>G
GRCh37 chr8:g.9537427A>G
gnomAD v2:
8:9537427 A / G
gnomAD v3:
8:9679917 A / G
gnomAD v4:
chr8-9679917-A-G
Joint Max Group AF 0.18109966 (SAS)
Genomes Max Group AF 0.17000639 (SAS)
Exomes Max Group AF 0.18123126 (SAS)
dbSNP:
6985140
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.9679917A>G , CM000670.2:g.9679917A>G GRCh38
NC_000008.10:g.9537427A>G , CM000670.1:g.9537427A>G GRCh37
NC_000008.9:g.9574837A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000517770.2:c.995-34A>G ENSP00000428185.2:n.995-34A>G
ENST00000310430.11:c.995-34A>G MANE Select ENSP00000311579.6:n.995-34A>G
ENST00000310430.10:c.995-34A>G ENSP00000311579.6:n.995-34A>G
ENST00000517989.1:n.72A>G
ENST00000518027.5:n.294-34A>G
ENST00000518281.5:c.284-34A>G ENSP00000429890.1:n.284-34A>G
ENST00000519392.5:n.84-34A>G
ENST00000520408.5:c.995-34A>G ENSP00000428299.1:n.995-34A>G
ENST00000521039.5:n.277-34A>G
NM_003747.2:c.995-34A>G NP_003738.2:n.995-34A>G
XM_006716263.2:c.995-34A>G XP_006716326.1:n.995-34A>G
XM_011543845.1:c.995-34A>G XP_011542147.1:n.995-34A>G
XM_011543846.1:c.995-34A>G XP_011542148.1:n.995-34A>G
XM_011543847.1:c.995-34A>G XP_011542149.1:n.995-34A>G
XM_006716263.4:c.995-34A>G XP_006716326.1:n.995-34A>G
XM_011543845.3:c.995-34A>G XP_011542147.1:n.995-34A>G
XM_011543846.3:c.995-34A>G XP_011542148.1:n.995-34A>G
NM_003747.3:c.995-34A>G MANE Select NP_003738.2:n.995-34A>G
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