Canonical Allele Identifier: CA10584047
Gene: SFRP4 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242997
ClinVar RCV Id: RCV000234974
dbSNP Id: rs879253778
MyVariant Identifiers: chr7:g.37954014_37954020del (hg19) chr7:g.37914412_37914418del (hg38)
PubMed: PMID:27355534
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37914413_37914419del , CM000669.2:g.37914413_37914419del GRCh38
NC_000007.13:g.37954015_37954021del , CM000669.1:g.37954015_37954021del GRCh37
NC_000007.12:g.37920540_37920546del NCBI36
NG_052980.1:g.7506_7512del

Transcript Alleles

HGVS Amino-acid Change
ENST00000436072.7:c.481_487del (SFRP4) MANE Select ENSP00000410715.2:p.Val161LysfsTer11
ENST00000436072.6:c.481_487del (SFRP4) ENSP00000410715.2:p.Val161LysfsTer11
ENST00000447200.2:c.79_85del (SFRP4) ENSP00000402262.2:p.Val27LysfsTer11
ENST00000476620.1:c.-37-34427_-37-34421del (EPDR1) ENSP00000425858.1:n.-37-34427_-37-34421del
NM_003014.3:c.481_487del (SFRP4) NP_003005.2:p.Val161LysfsTer11
NM_003014.4:c.481_487del (SFRP4) MANE Select NP_003005.2:p.Val161LysfsTer11
Search 100 bp 5'
Search 100 bp 3'