Canonical Allele Identifier: CA176282342
Gene: SFRP1 HGNC NCBI

Linked Data

dbSNP Id: rs879825354
gnomAD v2: 8-41119852-T-A
gnomAD v3: 8-41262333-T-A
gnomAD v4: 8-41262333-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41262333T>A , CM000670.2:g.41262333T>A GRCh38
NC_000008.10:g.41119852T>A , CM000670.1:g.41119852T>A GRCh37
NC_000008.9:g.41239009T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000220772.8:c.*2834A>T MANE Select ENSP00000220772.3:n.*2834A>T
ENST00000220772.7:c.*2834A>T ENSP00000220772.3:n.*2834A>T
ENST00000379845.3:c.*2834A>T ENSP00000369174.3:n.*2834A>T
NM_003012.4:c.*2834A>T NP_003003.3:n.*2834A>T
NM_003012.5:c.*2834A>T MANE Select NP_003003.3:n.*2834A>T