Canonical Allele Identifier: CA157145522

Linked Data

dbSNP Id: rs964355201
gnomAD v3: 7-37906558-C-T
gnomAD v4: 7-37906558-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37906558C>T , CM000669.2:g.37906558C>T GRCh38
NC_000007.13:g.37946160C>T , CM000669.1:g.37946160C>T GRCh37
NC_000007.12:g.37912685C>T NCBI36
NG_052980.1:g.15366G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000436072.7:c.*921G>A (SFRP4) MANE Select ENSP00000410715.2:n.*921G>A
ENST00000436072.6:c.*921G>A (SFRP4) ENSP00000410715.2:n.*921G>A
ENST00000476620.1:c.-37-42282C>T (EPDR1) ENSP00000425858.1:n.-37-42282C>T
NM_003014.3:c.*921G>A (SFRP4) NP_003005.2:n.*921G>A
NM_003014.4:c.*921G>A (SFRP4) MANE Select NP_003005.2:n.*921G>A