Canonical Allele Identifier: CA12718401
Gene: EGR3 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.22692184C>T
GRCh37 chr8:g.22549697C>T
gnomAD v2:
8:22549697 C / T
gnomAD v3:
8:22692184 C / T
gnomAD v4:
chr8-22692184-C-T
Joint Max Group AF 0.4509168 (AMR)
Genomes Max Group AF 0.40952088 (AMR)
Exomes Max Group AF 0.4882252 (AMR)
dbSNP:
35201266
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22692184C>T , CM000670.2:g.22692184C>T GRCh38
NC_000008.10:g.22549697C>T , CM000670.1:g.22549697C>T GRCh37
NC_000008.9:g.22605642C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000317216.3:c.154+607G>A MANE Select ENSP00000318057.2:n.154+607G>A
ENST00000317216.2:c.154+607G>A ENSP00000318057.2:n.154+607G>A
ENST00000518773.1:n.41G>A
ENST00000519492.1:c.207+118G>A ENSP00000429370.1:n.207+118G>A
ENST00000522910.1:c.40+118G>A ENSP00000430310.1:n.40+118G>A
ENST00000524088.1:n.219+315G>A
NM_001199880.1:c.40+118G>A NP_001186809.1:n.40+118G>A
NM_001199881.1:c.-9+315G>A NP_001186810.1:n.-9+315G>A
NM_004430.2:c.154+607G>A NP_004421.2:n.154+607G>A
XM_005273425.2:c.-123G>A XP_005273482.1:n.-123G>A
XM_005273426.2:c.40+118G>A XP_005273483.1:n.40+118G>A
XM_011544429.1:c.211+118G>A XP_011542731.1:n.211+118G>A
XM_005273425.3:c.-123G>A XP_005273482.1:n.-123G>A
XM_005273426.3:c.40+118G>A XP_005273483.1:n.40+118G>A
XM_011544429.2:c.211+118G>A XP_011542731.1:n.211+118G>A
NM_004430.3:c.154+607G>A MANE Select NP_004421.2:n.154+607G>A
NM_001199880.2:c.40+118G>A NP_001186809.1:n.40+118G>A
NM_001199881.2:c.-9+315G>A NP_001186810.1:n.-9+315G>A
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