Canonical Allele Identifier: CA157145639
Gene: SFRP4 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

dbSNP Id: rs988614383
gnomAD v2: 7-37946397-TTGTC-T
gnomAD v3: 7-37906795-TTGTC-T
gnomAD v4: 7-37906795-TTGTC-T
MyVariant Identifiers: chr7:g.37946398_37946401del (hg19) chr7:g.37906796_37906799del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37906798_37906801del , CM000669.2:g.37906798_37906801del GRCh38
NC_000007.13:g.37946400_37946403del , CM000669.1:g.37946400_37946403del GRCh37
NC_000007.12:g.37912925_37912928del NCBI36
NG_052980.1:g.15125_15128del

Transcript Alleles

HGVS Amino-acid change
ENST00000436072.7:c.*680_*683del (SFRP4) MANE Select ENSP00000410715.2:n.*680_*683del
ENST00000436072.6:c.*680_*683del (SFRP4) ENSP00000410715.2:n.*680_*683del
ENST00000476620.1:c.-37-42042_-37-42039del (EPDR1) ENSP00000425858.1:n.-37-42042_-37-42039de...
NM_003014.3:c.*680_*683del (SFRP4) NP_003005.2:n.*680_*683del
NM_003014.4:c.*680_*683del (SFRP4) MANE Select NP_003005.2:n.*680_*683del
Search 100 bp 5'
Search 100 bp 3'