Canonical Allele Identifier: CA573962496

Linked Data

dbSNP Id: rs1287593853
gnomAD v2: 7-37946291-C-T
gnomAD v3: 7-37906689-C-T
gnomAD v4: 7-37906689-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37906689C>T , CM000669.2:g.37906689C>T GRCh38
NC_000007.13:g.37946291C>T , CM000669.1:g.37946291C>T GRCh37
NC_000007.12:g.37912816C>T NCBI36
NG_052980.1:g.15235G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000436072.7:c.*790G>A (SFRP4) MANE Select ENSP00000410715.2:n.*790G>A
ENST00000436072.6:c.*790G>A (SFRP4) ENSP00000410715.2:n.*790G>A
ENST00000476620.1:c.-37-42151C>T (EPDR1) ENSP00000425858.1:n.-37-42151C>T
NM_003014.3:c.*790G>A (SFRP4) NP_003005.2:n.*790G>A
NM_003014.4:c.*790G>A (SFRP4) MANE Select NP_003005.2:n.*790G>A