Canonical Allele Identifier: CA2963671
Gene: EREG HGNC NCBI
ClinVar RCV:
RCV000972722
ClinVar Variation:
790002
dbSNP:
35275884
gnomAD v2:
4:75250455 G / A
gnomAD v3:
4:74384738 G / A
gnomAD v4:
chr4-74384738-G-A
Joint Max Group AF 0.04012266 (AFR)
Genomes Max Group AF 0.03804803 (AFR)
Exomes Max Group AF 0.04158461 (AFR)
MyVariant.info:
GRCh38 chr4:g.74384738G>A
GRCh37 chr4:g.75250455G>A
Revel Score:
ENST00000244869 (MANE Select) 0.010
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74384738G>A , CM000666.2:g.74384738G>A GRCh38
NC_000004.11:g.75250455G>A , CM000666.1:g.75250455G>A GRCh37
NC_000004.10:g.75469319G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000244869.3:c.440G>A MANE Select ENSP00000244869.2:p.Arg147Gln
ENST00000244869.2:c.440G>A ENSP00000244869.2:p.Arg147Gln
ENST00000503689.1:n.384G>A
NM_001432.2:c.440G>A NP_001423.1:p.Arg147Gln
NM_001432.3:c.440G>A MANE Select NP_001423.1:p.Arg147Gln
Search 100 bp 5'
Search 100 bp 3'