Canonical Allele Identifier: CA368560830
Gene: EPO HGNC NCBI
ClinVar RCV:
RCV000590853
ClinVar Variation:
496595
COSMIC:
COSM4681416
dbSNP:
1358275550
gnomAD v2:
7:100320704 G / A
gnomAD v3:
7:100723081 G / A
gnomAD v4:
chr7-100723081-G-A
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
MyVariant.info:
GRCh38 chr7:g.100723081G>A
GRCh37 chr7:g.100320704G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100723081G>A , CM000669.2:g.100723081G>A GRCh38
NC_000007.13:g.100320704G>A , CM000669.1:g.100320704G>A GRCh37
NC_000007.12:g.100158640G>A NCBI36
NG_021471.1:g.7282G>A
NG_021471.2:g.7282G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252723.3:c.530G>A MANE Select ENSP00000252723.2:p.Arg177Gln
ENST00000252723.2:c.530G>A ENSP00000252723.2:p.Arg177Gln
NM_000799.2:c.530G>A NP_000790.2:p.Arg177Gln
NM_000799.3:c.530G>A NP_000790.2:p.Arg177Gln
NM_000799.4:c.530G>A MANE Select NP_000790.2:p.Arg177Gln
Search 100 bp 5'
Search 100 bp 3'