Canonical Allele Identifier: CA2682437814
Gene: SFRP4 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

gnomAD v4: 7-37906556-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37906556C>A , CM000669.2:g.37906556C>A GRCh38
NC_000007.13:g.37946158C>A , CM000669.1:g.37946158C>A GRCh37
NC_000007.12:g.37912683C>A NCBI36
NG_052980.1:g.15368G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000436072.7:c.*923G>T (SFRP4) MANE Select ENSP00000410715.2:n.*923G>T
ENST00000436072.6:c.*923G>T (SFRP4) ENSP00000410715.2:n.*923G>T
ENST00000476620.1:c.-37-42284C>A (EPDR1) ENSP00000425858.1:n.-37-42284C>A
NM_003014.3:c.*923G>T (SFRP4) NP_003005.2:n.*923G>T
NM_003014.4:c.*923G>T (SFRP4) MANE Select NP_003005.2:n.*923G>T
Search 100 bp 5'
Search 100 bp 3'