Canonical Allele Identifier: CA15496963

Linked Data

dbSNP Id: rs2598116
gnomAD v2: 7-37946348-A-C
gnomAD v3: 7-37906746-A-C
gnomAD v4: 7-37906746-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37906746A>C , CM000669.2:g.37906746A>C GRCh38
NC_000007.13:g.37946348A>C , CM000669.1:g.37946348A>C GRCh37
NC_000007.12:g.37912873A>C NCBI36
NG_052980.1:g.15178T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000436072.7:c.*733T>G (SFRP4) MANE Select ENSP00000410715.2:n.*733T>G
ENST00000436072.6:c.*733T>G (SFRP4) ENSP00000410715.2:n.*733T>G
ENST00000476620.1:c.-37-42094A>C (EPDR1) ENSP00000425858.1:n.-37-42094A>C
NM_003014.3:c.*733T>G (SFRP4) NP_003005.2:n.*733T>G
NM_003014.4:c.*733T>G (SFRP4) MANE Select NP_003005.2:n.*733T>G