Canonical Allele Identifier: CA4223267

Gene: EPDR1 SFRP4

Linked Data

• dbSNP Id: rs766712462
• ExAC: 7:37988658 T / G
• gnomAD v2: 7-37988658-T-G
• gnomAD v3: 7-37949056-T-G
• gnomAD v4: 7-37949056-T-G
• COSMIC: COSM5435561
• MyVariant Identifiers: chr7:g.37988658T>G (hg19) ; chr7:g.37949056T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37949056T>G , CM000669.2:g.37949056T>G	GRCh38
NC_000007.13:g.37988658T>G , CM000669.1:g.37988658T>G	GRCh37
NC_000007.12:g.37955183T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199448.9:c.478+8T>G (EPDR1) MANE Select	ENSP00000199448.4:n.478+8T>G
ENST00000199448.8:c.478+8T>G (EPDR1)	ENSP00000199448.4:n.478+8T>G
ENST00000423717.1:c.270-1144T>G (EPDR1)	ENSP00000409211.1:n.270-1144T>G
ENST00000425345.1:c.295+8T>G (EPDR1)	ENSP00000413359.1:n.295+8T>G
ENST00000447200.2:c.-52-22282A>C (SFRP4)	ENSP00000402262.2:n.-52-22282A>C
ENST00000476620.1:c.172+8T>G (EPDR1)	ENSP00000425858.1:n.172+8T>G
NM_001242946.1:c.270-1144T>G (EPDR1)	NP_001229875.2:n.270-1144T>G
NM_001242948.1:c.295+8T>G (EPDR1)	NP_001229877.1:n.295+8T>G
NM_017549.4:c.478+8T>G (EPDR1)	NP_060019.2:n.478+8T>G
NM_017549.5:c.478+8T>G (EPDR1) MANE Select	NP_060019.2:n.478+8T>G
NM_001242946.2:c.270-1144T>G (EPDR1)	NP_001229875.2:n.270-1144T>G
NM_001242948.2:c.295+8T>G (EPDR1)	NP_001229877.1:n.295+8T>G