Canonical Allele Identifier: CA4223266

Gene: EPDR1 SFRP4

Linked Data

• dbSNP Id: rs761272357
• ExAC: 7:37988645 G / C
• gnomAD v2: 7-37988645-G-C
• gnomAD v3: 7-37949043-G-C
• gnomAD v4: 7-37949043-G-C
• MyVariant Identifiers: chr7:g.37988645G>C (hg19) ; chr7:g.37949043G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37949043G>C , CM000669.2:g.37949043G>C	GRCh38
NC_000007.13:g.37988645G>C , CM000669.1:g.37988645G>C	GRCh37
NC_000007.12:g.37955170G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199448.9:c.473G>C (EPDR1) MANE Select	ENSP00000199448.4:p.Arg158Thr
ENST00000199448.8:c.473G>C (EPDR1)	ENSP00000199448.4:p.Arg158Thr
ENST00000423717.1:c.270-1157G>C (EPDR1)	ENSP00000409211.1:n.270-1157G>C
ENST00000425345.1:c.290G>C (EPDR1)	ENSP00000413359.1:p.Arg97Thr
ENST00000447200.2:c.-52-22269C>G (SFRP4)	ENSP00000402262.2:n.-52-22269C>G
ENST00000476620.1:c.167G>C (EPDR1)	ENSP00000425858.1:p.Arg56Thr
NM_001242946.1:c.270-1157G>C (EPDR1)	NP_001229875.2:n.270-1157G>C
NM_001242948.1:c.290G>C (EPDR1)	NP_001229877.1:p.Arg97Thr
NM_017549.4:c.473G>C (EPDR1)	NP_060019.2:p.Arg158Thr
NM_017549.5:c.473G>C (EPDR1) MANE Select	NP_060019.2:p.Arg158Thr
NM_001242946.2:c.270-1157G>C (EPDR1)	NP_001229875.2:n.270-1157G>C
NM_001242948.2:c.290G>C (EPDR1)	NP_001229877.1:p.Arg97Thr