Canonical Allele Identifier: CA367217291

Gene: EPDR1 SFRP4

Linked Data

• dbSNP Id: rs1240808668
• gnomAD v2: 7-37988648-C-G
• gnomAD v4: 7-37949046-C-G
• MyVariant Identifiers: chr7:g.37988648C>G (hg19) ; chr7:g.37949046C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37949046C>G , CM000669.2:g.37949046C>G	GRCh38
NC_000007.13:g.37988648C>G , CM000669.1:g.37988648C>G	GRCh37
NC_000007.12:g.37955173C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199448.9:c.476C>G (EPDR1) MANE Select	ENSP00000199448.4:p.Ser159Cys
ENST00000199448.8:c.476C>G (EPDR1)	ENSP00000199448.4:p.Ser159Cys
ENST00000423717.1:c.270-1154C>G (EPDR1)	ENSP00000409211.1:n.270-1154C>G
ENST00000425345.1:c.293C>G (EPDR1)	ENSP00000413359.1:p.Ser98Cys
ENST00000447200.2:c.-52-22272G>C (SFRP4)	ENSP00000402262.2:n.-52-22272G>C
ENST00000476620.1:c.170C>G (EPDR1)	ENSP00000425858.1:p.Ser57Cys
NM_001242946.1:c.270-1154C>G (EPDR1)	NP_001229875.2:n.270-1154C>G
NM_001242948.1:c.293C>G (EPDR1)	NP_001229877.1:p.Ser98Cys
NM_017549.4:c.476C>G (EPDR1)	NP_060019.2:p.Ser159Cys
NM_017549.5:c.476C>G (EPDR1) MANE Select	NP_060019.2:p.Ser159Cys
NM_001242946.2:c.270-1154C>G (EPDR1)	NP_001229875.2:n.270-1154C>G
NM_001242948.2:c.293C>G (EPDR1)	NP_001229877.1:p.Ser98Cys