Canonical Allele Identifier: CA9210915

Gene: EPOR

Linked Data

• ClinVar Variation Id: 328156
• ClinVar RCV Id: RCV000352025
• dbSNP Id: rs192525298
• ExAC: 19:11494762 T / C
• gnomAD v2: 19-11494762-T-C
• gnomAD v3: 19-11384086-T-C
• gnomAD v4: 19-11384086-T-C
• MyVariant Identifiers: chr19:g.11494762T>C (hg19) ; chr19:g.11384086T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11384086T>C , CM000681.2:g.11384086T>C	GRCh38
NC_000019.9:g.11494762T>C , CM000681.1:g.11494762T>C	GRCh37
NC_000019.8:g.11355762T>C	NCBI36
NG_021395.1:g.5257A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222139.11:c.115+7A>G MANE Select	ENSP00000222139.5:n.115+7A>G
ENST00000222139.10:c.115+7A>G	ENSP00000222139.5:n.115+7A>G
ENST00000586890.5:c.115+7A>G	ENSP00000467230.1:n.115+7A>G
ENST00000588681.5:n.250+7A>G
ENST00000588859.5:c.115+7A>G	ENSP00000466784.1:n.115+7A>G
ENST00000591958.5:c.115+7A>G	ENSP00000468187.1:n.115+7A>G
ENST00000592375.6:c.115+7A>G	ENSP00000467809.2:n.115+7A>G
NM_000121.3:c.115+7A>G	NP_000112.1:n.115+7A>G
NR_033663.1:n.250+7A>G
NM_000121.4:c.115+7A>G MANE Select	NP_000112.1:n.115+7A>G
NR_033663.2:n.222+7A>G