Canonical Allele Identifier: CA1100334620
Gene: SFRP4 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

dbSNP Id: rs888656239
gnomAD v3: 7-37906682-C-T
gnomAD v4: 7-37906682-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37906682C>T , CM000669.2:g.37906682C>T GRCh38
NC_000007.13:g.37946284C>T , CM000669.1:g.37946284C>T GRCh37
NC_000007.12:g.37912809C>T NCBI36
NG_052980.1:g.15242G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000436072.7:c.*797G>A (SFRP4) MANE Select ENSP00000410715.2:n.*797G>A
ENST00000436072.6:c.*797G>A (SFRP4) ENSP00000410715.2:n.*797G>A
ENST00000476620.1:c.-37-42158C>T (EPDR1) ENSP00000425858.1:n.-37-42158C>T
NM_003014.3:c.*797G>A (SFRP4) NP_003005.2:n.*797G>A
NM_003014.4:c.*797G>A (SFRP4) MANE Select NP_003005.2:n.*797G>A
Search 100 bp 5'
Search 100 bp 3'