Canonical Allele Identifier: CA12787293
Gene: CLU HGNC NCBI
COSMIC:
COSN19692891 (not active)
MyVariant.info:
GRCh38 chr8:g.27598736T>C
GRCh37 chr8:g.27456253T>C
gnomAD v2:
8:27456253 T / C
gnomAD v3:
8:27598736 T / C
gnomAD v4:
chr8-27598736-T-C
Joint Max Group AF 0.88976691 (AFR)
Genomes Max Group AF 0.88711924 (AFR)
Exomes Max Group AF 0.88770708 (AFR)
dbSNP:
2279590
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27598736T>C , CM000670.2:g.27598736T>C GRCh38
NC_000008.10:g.27456253T>C , CM000670.1:g.27456253T>C GRCh37
NC_000008.9:g.27512170T>C NCBI36
NG_027845.1:g.21075A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000316403.15:c.1165-101A>G MANE Select ENSP00000315130.10:n.1165-101A>G
ENST00000316403.14:c.1165-101A>G ENSP00000315130.10:n.1165-101A>G
ENST00000405140.7:c.1165-101A>G ENSP00000385419.3:n.1165-101A>G
ENST00000521770.1:c.237-101A>G
ENST00000522098.1:c.752-101A>G
ENST00000522299.5:n.2276A>G
ENST00000523500.5:c.1165-101A>G ENSP00000429620.1:n.1165-101A>G
NM_001831.3:c.1165-101A>G NP_001822.3:n.1165-101A>G
NR_038335.1:n.1486-101A>G
NR_045494.1:n.1345-101A>G
XM_006716284.1:c.1321-101A>G XP_006716347.1:n.1321-101A>G
XM_006716284.3:c.1321-101A>G XP_006716347.1:n.1321-101A>G
NM_001831.4:c.1165-101A>G MANE Select NP_001822.3:n.1165-101A>G
NR_038335.2:n.1420-101A>G
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