Canonical Allele Identifier: CA157145630

Linked Data

dbSNP Id: rs925871274
gnomAD v2: 7-37946383-C-T
gnomAD v3: 7-37906781-C-T
gnomAD v4: 7-37906781-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37906781C>T , CM000669.2:g.37906781C>T GRCh38
NC_000007.13:g.37946383C>T , CM000669.1:g.37946383C>T GRCh37
NC_000007.12:g.37912908C>T NCBI36
NG_052980.1:g.15143G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000436072.7:c.*698G>A (SFRP4) MANE Select ENSP00000410715.2:n.*698G>A
ENST00000436072.6:c.*698G>A (SFRP4) ENSP00000410715.2:n.*698G>A
ENST00000476620.1:c.-37-42059C>T (EPDR1) ENSP00000425858.1:n.-37-42059C>T
NM_003014.3:c.*698G>A (SFRP4) NP_003005.2:n.*698G>A
NM_003014.4:c.*698G>A (SFRP4) MANE Select NP_003005.2:n.*698G>A