Canonical Allele Identifier: CA4222670
Gene: SFRP4 HGNC NCBI
EPDR1 HGNC NCBI
COSMIC:
COSM3736442 (not active)
MyVariant.info:
GRCh38 chr7:g.37907562G>T
GRCh37 chr7:g.37947164G>T
Revel Score:
ENST00000436072 (MANE Select) 0.071
ENST00000446575 0.071
gnomAD v2:
7:37947164 G / T
gnomAD v3:
7:37907562 G / T
gnomAD v4:
chr7-37907562-G-T
Joint Max Group AF 0.57345114 (AFR)
Genomes Max Group AF 0.57076014 (AFR)
Exomes Max Group AF 0.57257934 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37907562G>T , CM000669.2:g.37907562G>T GRCh38
NC_000007.13:g.37947164G>T , CM000669.1:g.37947164G>T GRCh37
NC_000007.12:g.37913689G>T NCBI36
NG_052980.1:g.14362C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000436072.7:c.958C>A (SFRP4) MANE Select ENSP00000410715.2:p.Pro320Thr
ENST00000436072.6:c.958C>A (SFRP4) ENSP00000410715.2:p.Pro320Thr
ENST00000476620.1:c.-37-41278G>T (EPDR1) ENSP00000425858.1:n.-37-41278G>T
ENST00000478975.1:n.326C>A (SFRP4)
NM_003014.3:c.958C>A (SFRP4) NP_003005.2:p.Pro320Thr
NM_003014.4:c.958C>A (SFRP4) MANE Select NP_003005.2:p.Pro320Thr
Search 100 bp 5'
Search 100 bp 3'