Canonical Allele Identifier: CA7246633
Gene: SMOC1 HGNC NCBI
COSMIC:
COSN17474029 (not active)
MyVariant.info:
GRCh38 chr14:g.70011466C>A
GRCh37 chr14:g.70478183C>A
gnomAD v2:
14:70478183 C / A
gnomAD v3:
14:70011466 C / A
gnomAD v4:
chr14-70011466-C-A
Joint Max Group AF 0.40491717 (EAS)
Genomes Max Group AF 0.38898815 (EAS)
Exomes Max Group AF 0.40541723 (EAS)
ClinVar Allele:
255040
ClinVar RCV:
RCV000243419
RCV001682997
RCV001808686
ClinVar Variation:
257190
dbSNP:
57609901
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.70011466C>A , CM000676.2:g.70011466C>A GRCh38
NC_000014.8:g.70478183C>A , CM000676.1:g.70478183C>A GRCh37
NC_000014.7:g.69547936C>A NCBI36
NG_028217.1:g.137070C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361956.8:c.858-19C>A MANE Select ENSP00000355110.4:n.858-19C>A
ENST00000361956.7:c.858-19C>A ENSP00000355110.3:n.858-19C>A
ENST00000381280.4:c.858-19C>A ENSP00000370680.4:n.858-19C>A
ENST00000557483.1:n.436-19C>A
NM_001034852.2:c.858-19C>A NP_001030024.1:n.858-19C>A
NM_022137.5:c.858-19C>A NP_071420.1:n.858-19C>A
XM_005267995.1:c.891-19C>A XP_005268052.1:n.891-19C>A
XM_005267996.1:c.891-19C>A XP_005268053.1:n.891-19C>A
NM_001034852.3:c.858-19C>A MANE Select NP_001030024.1:n.858-19C>A
NM_022137.6:c.858-19C>A NP_071420.1:n.858-19C>A
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