Canonical Allele Identifier: CA9894671
Gene: NCOA3 HGNC NCBI
COSMIC:
COSM4987716 (not active)
MyVariant.info:
GRCh38 chr20:g.47636144G>C
GRCh37 chr20:g.46264888G>C
Revel Score:
ENST00000340189 0.094
ENST00000341724 0.094
ENST00000372004 0.094
ENST00000371998 (MANE Select) 0.094
ENST00000371997 0.094
gnomAD v2:
20:46264888 G / C
gnomAD v3:
20:47636144 G / C
gnomAD v4:
chr20-47636144-G-C
Joint Max Group AF 0.09106047 (NFE)
Genomes Max Group AF 0.09537007 (NFE)
Exomes Max Group AF 0.0906921 (NFE)
dbSNP:
2230782
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.47636144G>C , CM000682.2:g.47636144G>C GRCh38
NC_000020.10:g.46264888G>C , CM000682.1:g.46264888G>C GRCh37
NC_000020.9:g.45698295G>C NCBI36
NG_016810.1:g.139288G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371998.8:c.1758G>C MANE Select ENSP00000361066.3:p.Gln586His
ENST00000371997.3:c.1788G>C ENSP00000361065.3:p.Gln596His
ENST00000371998.7:c.1758G>C ENSP00000361066.3:p.Gln586His
ENST00000372004.7:c.1758G>C ENSP00000361073.1:p.Gln586His
NM_001174087.1:c.1758G>C NP_001167558.1:p.Gln586His
NM_001174088.1:c.1788G>C NP_001167559.1:p.Gln596His
NM_006534.3:c.1758G>C NP_006525.2:p.Gln586His
NM_181659.2:c.1758G>C NP_858045.1:p.Gln586His
NM_181659.3:c.1758G>C MANE Select NP_858045.1:p.Gln586His
NM_001174087.2:c.1758G>C NP_001167558.1:p.Gln586His
NM_001174088.2:c.1788G>C NP_001167559.1:p.Gln596His
NM_006534.4:c.1758G>C NP_006525.2:p.Gln586His
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