Canonical Allele Identifier: CA8495693
Gene: CCL11 HGNC NCBI
COSMIC:
COSM4000094 (not active)
MyVariant.info:
GRCh38 chr17:g.34285875G>A
GRCh37 chr17:g.32612894G>A
Revel Score:
ENST00000305869 (MANE Select) 0.061
gnomAD v2:
17:32612894 G / A
gnomAD v3:
17:34285875 G / A
gnomAD v4:
chr17-34285875-G-A
Joint Max Group AF 0.18503396 (MID)
Genomes Max Group AF 0.17461587 (NFE)
Exomes Max Group AF 0.18584212 (MID)
ClinVar RCV:
RCV003974708
ClinVar Variation:
3059737
dbSNP:
1129844
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.34285875G>A , CM000679.2:g.34285875G>A GRCh38
NC_000017.10:g.32612894G>A , CM000679.1:g.32612894G>A GRCh37
NC_000017.9:g.29637007G>A NCBI36
NG_012212.1:g.5208G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305869.4:c.67G>A MANE Select ENSP00000302234.3:p.Ala23Thr
ENST00000305869.3:c.67G>A ENSP00000302234.3:p.Ala23Thr
NM_002986.2:c.67G>A NP_002977.1:p.Ala23Thr
NM_002986.3:c.67G>A MANE Select NP_002977.1:p.Ala23Thr
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