Canonical Allele Identifier: CA176282320
Gene: SFRP1 HGNC NCBI

Linked Data

dbSNP Id: rs141428967
gnomAD v3: 8-41262134-C-G
gnomAD v4: 8-41262134-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41262134C>G , CM000670.2:g.41262134C>G GRCh38
NC_000008.10:g.41119653C>G , CM000670.1:g.41119653C>G GRCh37
NC_000008.9:g.41238810C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000220772.8:c.*3033G>C MANE Select ENSP00000220772.3:n.*3033G>C
ENST00000220772.7:c.*3033G>C ENSP00000220772.3:n.*3033G>C
ENST00000379845.3:c.*3033G>C ENSP00000369174.3:n.*3033G>C
NM_003012.4:c.*3033G>C NP_003003.3:n.*3033G>C
NM_003012.5:c.*3033G>C MANE Select NP_003003.3:n.*3033G>C