Canonical Allele Identifier: CA581419353
Gene: SFRP1 HGNC NCBI

Linked Data

dbSNP Id: rs1464944319
gnomAD v2: 8-41119926-T-G
gnomAD v3: 8-41262407-T-G
gnomAD v4: 8-41262407-T-G
MyVariant Identifiers: chr8:g.41119926T>G (hg19) chr8:g.41262407T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41262407T>G , CM000670.2:g.41262407T>G GRCh38
NC_000008.10:g.41119926T>G , CM000670.1:g.41119926T>G GRCh37
NC_000008.9:g.41239083T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000220772.8:c.*2760A>C MANE Select ENSP00000220772.3:n.*2760A>C
ENST00000220772.7:c.*2760A>C ENSP00000220772.3:n.*2760A>C
ENST00000379845.3:c.*2760A>C ENSP00000369174.3:n.*2760A>C
NM_003012.4:c.*2760A>C NP_003003.3:n.*2760A>C
NM_003012.5:c.*2760A>C MANE Select NP_003003.3:n.*2760A>C
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