Canonical Allele Identifier: CA8495917
Gene: CCL8 HGNC NCBI
COSMIC:
COSM4000095 (not active)
MyVariant.info:
GRCh38 chr17:g.34320812A>C
GRCh37 chr17:g.32647831A>C
Revel Score:
ENST00000394620 (MANE Select) 0.061
ENST00000225840 0.061
gnomAD v2:
17:32647831 A / C
gnomAD v3:
17:34320812 A / C
gnomAD v4:
chr17-34320812-A-C
Joint Max Group AF 0.35469311 (SAS)
Genomes Max Group AF 0.35353476 (SAS)
Exomes Max Group AF 0.35404355 (SAS)
dbSNP:
1133763
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.34320812A>C , CM000679.2:g.34320812A>C GRCh38
NC_000017.10:g.32647831A>C , CM000679.1:g.32647831A>C GRCh37
NC_000017.9:g.29671944A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000394620.2:c.205A>C MANE Select ENSP00000378118.1:p.Lys69Gln
ENST00000394620.1:c.205A>C ENSP00000378118.1:p.Lys69Gln
NM_005623.2:c.205A>C NP_005614.2:p.Lys69Gln
NM_005623.3:c.205A>C MANE Select NP_005614.2:p.Lys69Gln
Search 100 bp 5'
Search 100 bp 3'