Canonical Allele Identifier: CA1100334654
Gene: SFRP4 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

dbSNP Id: rs1785402129
gnomAD v3: 7-37906796-T-C
gnomAD v4: 7-37906796-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37906796T>C , CM000669.2:g.37906796T>C GRCh38
NC_000007.13:g.37946398T>C , CM000669.1:g.37946398T>C GRCh37
NC_000007.12:g.37912923T>C NCBI36
NG_052980.1:g.15128A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000436072.7:c.*683A>G (SFRP4) MANE Select ENSP00000410715.2:n.*683A>G
ENST00000436072.6:c.*683A>G (SFRP4) ENSP00000410715.2:n.*683A>G
ENST00000476620.1:c.-37-42044T>C (EPDR1) ENSP00000425858.1:n.-37-42044T>C
NM_003014.3:c.*683A>G (SFRP4) NP_003005.2:n.*683A>G
NM_003014.4:c.*683A>G (SFRP4) MANE Select NP_003005.2:n.*683A>G
Search 100 bp 5'
Search 100 bp 3'