Canonical Allele Identifier: CA367217281

Gene: EPDR1 SFRP4

Linked Data

• COSMIC: COSM3768359
• MyVariant Identifiers: chr7:g.37988644A>G (hg19) ; chr7:g.37949042A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37949042A>G , CM000669.2:g.37949042A>G	GRCh38
NC_000007.13:g.37988644A>G , CM000669.1:g.37988644A>G	GRCh37
NC_000007.12:g.37955169A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199448.9:c.472A>G (EPDR1) MANE Select	ENSP00000199448.4:p.Arg158Gly
ENST00000199448.8:c.472A>G (EPDR1)	ENSP00000199448.4:p.Arg158Gly
ENST00000423717.1:c.270-1158A>G (EPDR1)	ENSP00000409211.1:n.270-1158A>G
ENST00000425345.1:c.289A>G (EPDR1)	ENSP00000413359.1:p.Arg97Gly
ENST00000447200.2:c.-52-22268T>C (SFRP4)	ENSP00000402262.2:n.-52-22268T>C
ENST00000476620.1:c.166A>G (EPDR1)	ENSP00000425858.1:p.Arg56Gly
NM_001242946.1:c.270-1158A>G (EPDR1)	NP_001229875.2:n.270-1158A>G
NM_001242948.1:c.289A>G (EPDR1)	NP_001229877.1:p.Arg97Gly
NM_017549.4:c.472A>G (EPDR1)	NP_060019.2:p.Arg158Gly
NM_017549.5:c.472A>G (EPDR1) MANE Select	NP_060019.2:p.Arg158Gly
NM_001242946.2:c.270-1158A>G (EPDR1)	NP_001229875.2:n.270-1158A>G
NM_001242948.2:c.289A>G (EPDR1)	NP_001229877.1:p.Arg97Gly