Canonical Allele Identifier: CA4223264

Gene: EPDR1 SFRP4

Linked Data

• dbSNP Id: rs768112913
• ExAC: 7:37988632 A / G
• gnomAD v2: 7-37988632-A-G
• gnomAD v4: 7-37949030-A-G
• MyVariant Identifiers: chr7:g.37988632A>G (hg19) ; chr7:g.37949030A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37949030A>G , CM000669.2:g.37949030A>G	GRCh38
NC_000007.13:g.37988632A>G , CM000669.1:g.37988632A>G	GRCh37
NC_000007.12:g.37955157A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199448.9:c.460A>G (EPDR1) MANE Select	ENSP00000199448.4:p.Arg154Gly
ENST00000199448.8:c.460A>G (EPDR1)	ENSP00000199448.4:p.Arg154Gly
ENST00000423717.1:c.270-1170A>G (EPDR1)	ENSP00000409211.1:n.270-1170A>G
ENST00000425345.1:c.277A>G (EPDR1)	ENSP00000413359.1:p.Arg93Gly
ENST00000447200.2:c.-52-22256T>C (SFRP4)	ENSP00000402262.2:n.-52-22256T>C
ENST00000476620.1:c.154A>G (EPDR1)	ENSP00000425858.1:p.Arg52Gly
NM_001242946.1:c.270-1170A>G (EPDR1)	NP_001229875.2:n.270-1170A>G
NM_001242948.1:c.277A>G (EPDR1)	NP_001229877.1:p.Arg93Gly
NM_017549.4:c.460A>G (EPDR1)	NP_060019.2:p.Arg154Gly
NM_017549.5:c.460A>G (EPDR1) MANE Select	NP_060019.2:p.Arg154Gly
NM_001242946.2:c.270-1170A>G (EPDR1)	NP_001229875.2:n.270-1170A>G
NM_001242948.2:c.277A>G (EPDR1)	NP_001229877.1:p.Arg93Gly