Canonical Allele Identifier: CA15499023

Linked Data

dbSNP Id: rs1052981
gnomAD v2: 7-37946501-G-A
gnomAD v3: 7-37906899-G-A
gnomAD v4: 7-37906899-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37906899G>A , CM000669.2:g.37906899G>A GRCh38
NC_000007.13:g.37946501G>A , CM000669.1:g.37946501G>A GRCh37
NC_000007.12:g.37913026G>A NCBI36
NG_052980.1:g.15025C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000436072.7:c.*580C>T (SFRP4) MANE Select ENSP00000410715.2:n.*580C>T
ENST00000436072.6:c.*580C>T (SFRP4) ENSP00000410715.2:n.*580C>T
ENST00000476620.1:c.-37-41941G>A (EPDR1) ENSP00000425858.1:n.-37-41941G>A
NM_003014.3:c.*580C>T (SFRP4) NP_003005.2:n.*580C>T
NM_003014.4:c.*580C>T (SFRP4) MANE Select NP_003005.2:n.*580C>T