Canonical Allele Identifier: CA287466832
Gene: CD68 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.7581813A>G
GRCh37 chr17:g.7485131A>G
gnomAD v2:
17:7485131 A / G
gnomAD v3:
17:7581813 A / G
gnomAD v4:
chr17-7581813-A-G
Joint Max Group AF 0.02238353 (NFE)
Genomes Max Group AF 0.0234524 (NFE)
Exomes Max Group AF 0.02126247 (NFE)
dbSNP:
12944954
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7581813A>G , CM000679.2:g.7581813A>G GRCh38
NC_000017.10:g.7485131A>G , CM000679.1:g.7485131A>G GRCh37
NC_000017.9:g.7425855A>G NCBI36
NG_009204.1:g.3167A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000250092.11:c.*302A>G MANE Select ENSP00000250092.6:n.*302A>G
ENST00000250092.10:c.*302A>G ENSP00000250092.6:n.*302A>G
ENST00000380498.10:c.*302A>G ENSP00000369867.6:n.*302A>G
NM_001040059.1:c.*302A>G NP_001035148.1:n.*302A>G
NM_001251.2:c.*302A>G NP_001242.2:n.*302A>G
NM_001251.3:c.*302A>G MANE Select NP_001242.2:n.*302A>G
NM_001040059.2:c.*302A>G NP_001035148.1:n.*302A>G
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