Canonical Allele Identifier: CA176282317

Gene: SFRP1

Linked Data

• dbSNP Id: rs923808834
• gnomAD v3: 8-41262118-A-G
• gnomAD v4: 8-41262118-A-G
• MyVariant Identifiers: chr8:g.41119637A>G (hg19) ; chr8:g.41262118A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41262118A>G , CM000670.2:g.41262118A>G	GRCh38
NC_000008.10:g.41119637A>G , CM000670.1:g.41119637A>G	GRCh37
NC_000008.9:g.41238794A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220772.8:c.*3049T>C MANE Select	ENSP00000220772.3:n.*3049T>C
ENST00000220772.7:c.*3049T>C	ENSP00000220772.3:n.*3049T>C
ENST00000379845.3:c.*3049T>C	ENSP00000369174.3:n.*3049T>C
NM_003012.4:c.*3049T>C	NP_003003.3:n.*3049T>C
NM_003012.5:c.*3049T>C MANE Select	NP_003003.3:n.*3049T>C