Canonical Allele Identifier: CA176282308
Gene: SFRP1 HGNC NCBI

Linked Data

dbSNP Id: rs941672160
gnomAD v2: 8-41119579-C-T
gnomAD v3: 8-41262060-C-T
gnomAD v4: 8-41262060-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41262060C>T , CM000670.2:g.41262060C>T GRCh38
NC_000008.10:g.41119579C>T , CM000670.1:g.41119579C>T GRCh37
NC_000008.9:g.41238736C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000220772.8:c.*3107G>A MANE Select ENSP00000220772.3:n.*3107G>A
ENST00000220772.7:c.*3107G>A ENSP00000220772.3:n.*3107G>A
ENST00000379845.3:c.*3107G>A ENSP00000369174.3:n.*3107G>A
NM_003012.4:c.*3107G>A NP_003003.3:n.*3107G>A
NM_003012.5:c.*3107G>A MANE Select NP_003003.3:n.*3107G>A