Canonical Allele Identifier: CA838218592

Gene: EPDR1 SFRP4

Linked Data

• dbSNP Id: rs1331091744
• gnomAD v3: 7-37949571-G-A
• gnomAD v4: 7-37949571-G-A
• MyVariant Identifiers: chr7:g.37989173G>A (hg19) ; chr7:g.37949571G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37949571G>A , CM000669.2:g.37949571G>A	GRCh38
NC_000007.13:g.37989173G>A , CM000669.1:g.37989173G>A	GRCh37
NC_000007.12:g.37955698G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199448.9:c.478+523G>A (EPDR1) MANE Select	ENSP00000199448.4:n.478+523G>A
ENST00000199448.8:c.478+523G>A (EPDR1)	ENSP00000199448.4:n.478+523G>A
ENST00000423717.1:c.270-629G>A (EPDR1)	ENSP00000409211.1:n.270-629G>A
ENST00000425345.1:c.295+523G>A (EPDR1)	ENSP00000413359.1:n.295+523G>A
ENST00000447200.2:c.-52-22797C>T (SFRP4)	ENSP00000402262.2:n.-52-22797C>T
ENST00000476620.1:c.172+523G>A (EPDR1)	ENSP00000425858.1:n.172+523G>A
NM_001242946.1:c.270-629G>A (EPDR1)	NP_001229875.2:n.270-629G>A
NM_001242948.1:c.295+523G>A (EPDR1)	NP_001229877.1:n.295+523G>A
NM_017549.4:c.478+523G>A (EPDR1)	NP_060019.2:n.478+523G>A
NM_017549.5:c.478+523G>A (EPDR1) MANE Select	NP_060019.2:n.478+523G>A
NM_001242946.2:c.270-629G>A (EPDR1)	NP_001229875.2:n.270-629G>A
NM_001242948.2:c.295+523G>A (EPDR1)	NP_001229877.1:n.295+523G>A