Canonical Allele Identifier: CA4222656
Gene: SFRP4 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332946
ClinVar RCV Id: RCV001807585 RCV002077259 RCV003984111
dbSNP Id: rs1802074
ExAC: 7:37947103 C / T
gnomAD v2: 7-37947103-C-T
gnomAD v3: 7-37907501-C-T
gnomAD v4: 7-37907501-C-T
MyVariant Identifiers: chr7:g.37947103C>T (hg19) chr7:g.37907501C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37907501C>T , CM000669.2:g.37907501C>T GRCh38
NC_000007.13:g.37947103C>T , CM000669.1:g.37947103C>T GRCh37
NC_000007.12:g.37913628C>T NCBI36
NG_052980.1:g.14423G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000436072.7:c.1019G>A (SFRP4) MANE Select ENSP00000410715.2:p.Arg340Lys
ENST00000436072.6:c.1019G>A (SFRP4) ENSP00000410715.2:p.Arg340Lys
ENST00000476620.1:c.-37-41339C>T (EPDR1) ENSP00000425858.1:n.-37-41339C>T
ENST00000478975.1:n.387G>A (SFRP4)
NM_003014.3:c.1019G>A (SFRP4) NP_003005.2:p.Arg340Lys
NM_003014.4:c.1019G>A (SFRP4) MANE Select NP_003005.2:p.Arg340Lys
Search 100 bp 5'
Search 100 bp 3'