Canonical Allele Identifier: CA347257415
Gene: EGR4 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.73293596C>G
GRCh37 chr2:g.73520724C>G
Revel Score:
ENST00000545030 0.048
gnomAD v3:
2:73293596 C / G
gnomAD v4:
chr2-73293596-C-G
Joint Max Group AF 0.00000943 (EAS)
ClinVar RCV:
RCV004115507
ClinVar Variation:
2259725
dbSNP:
1201774954
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73293596C>G , CM000664.2:g.73293596C>G GRCh38
NC_000002.11:g.73520724C>G , CM000664.1:g.73520724C>G GRCh37
NC_000002.10:g.73374232C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000436467.3:c.-279G>C ENSP00000419687.1:n.-279G>C
ENST00000545030.1:c.31G>C ENSP00000445626.1:p.Glu11Gln
NM_001965.3:c.31G>C NP_001956.3:p.Glu11Gln
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