Canonical Allele Identifier: CA367217280

Gene: EPDR1 SFRP4

Linked Data

• gnomAD v4: 7-37949040-C-T
• COSMIC: COSM3880873
• MyVariant Identifiers: chr7:g.37988642C>T (hg19) ; chr7:g.37949040C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37949040C>T , CM000669.2:g.37949040C>T	GRCh38
NC_000007.13:g.37988642C>T , CM000669.1:g.37988642C>T	GRCh37
NC_000007.12:g.37955167C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199448.9:c.470C>T (EPDR1) MANE Select	ENSP00000199448.4:p.Ala157Val
ENST00000199448.8:c.470C>T (EPDR1)	ENSP00000199448.4:p.Ala157Val
ENST00000423717.1:c.270-1160C>T (EPDR1)	ENSP00000409211.1:n.270-1160C>T
ENST00000425345.1:c.287C>T (EPDR1)	ENSP00000413359.1:p.Ala96Val
ENST00000447200.2:c.-52-22266G>A (SFRP4)	ENSP00000402262.2:n.-52-22266G>A
ENST00000476620.1:c.164C>T (EPDR1)	ENSP00000425858.1:p.Ala55Val
NM_001242946.1:c.270-1160C>T (EPDR1)	NP_001229875.2:n.270-1160C>T
NM_001242948.1:c.287C>T (EPDR1)	NP_001229877.1:p.Ala96Val
NM_017549.4:c.470C>T (EPDR1)	NP_060019.2:p.Ala157Val
NM_017549.5:c.470C>T (EPDR1) MANE Select	NP_060019.2:p.Ala157Val
NM_001242946.2:c.270-1160C>T (EPDR1)	NP_001229875.2:n.270-1160C>T
NM_001242948.2:c.287C>T (EPDR1)	NP_001229877.1:p.Ala96Val