Canonical Allele Identifier: CA176282334

Gene: SFRP1

Linked Data

• dbSNP Id: rs958463528
• gnomAD v3: 8-41262251-C-T
• gnomAD v4: 8-41262251-C-T
• MyVariant Identifiers: chr8:g.41119770C>T (hg19) ; chr8:g.41262251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41262251C>T , CM000670.2:g.41262251C>T	GRCh38
NC_000008.10:g.41119770C>T , CM000670.1:g.41119770C>T	GRCh37
NC_000008.9:g.41238927C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220772.8:c.*2916G>A MANE Select	ENSP00000220772.3:n.*2916G>A
ENST00000220772.7:c.*2916G>A	ENSP00000220772.3:n.*2916G>A
ENST00000379845.3:c.*2916G>A	ENSP00000369174.3:n.*2916G>A
NM_003012.4:c.*2916G>A	NP_003003.3:n.*2916G>A
NM_003012.5:c.*2916G>A MANE Select	NP_003003.3:n.*2916G>A