Canonical Allele Identifier: CA7246362
Gene: SMOC1 HGNC NCBI
COSMIC:
COSM3754066 (not active)
MyVariant.info:
GRCh38 chr14:g.69952164G>A
GRCh37 chr14:g.70418881G>A
gnomAD v2:
14:70418881 G / A
gnomAD v3:
14:69952164 G / A
gnomAD v4:
chr14-69952164-G-A
Joint Max Group AF 0.37918253 (EAS)
Genomes Max Group AF 0.36921735 (EAS)
Exomes Max Group AF 0.3789723 (EAS)
ClinVar Allele:
255038
ClinVar RCV:
RCV000248068
RCV001682996
RCV001808684
ClinVar Variation:
257188
dbSNP:
3742909
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.69952164G>A , CM000676.2:g.69952164G>A GRCh38
NC_000014.8:g.70418881G>A , CM000676.1:g.70418881G>A GRCh37
NC_000014.7:g.69488634G>A NCBI36
NG_028217.1:g.77768G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361956.8:c.126G>A MANE Select ENSP00000355110.4:p.Gln42=
ENST00000361956.7:c.126G>A ENSP00000355110.3:p.Gln42=
ENST00000381280.4:c.126G>A ENSP00000370680.4:p.Gln42=
ENST00000553839.1:n.28G>A
ENST00000555917.1:n.431G>A
NM_001034852.2:c.126G>A NP_001030024.1:p.Gln42=
NM_022137.5:c.126G>A NP_071420.1:p.Gln42=
XM_005267995.1:c.126G>A XP_005268052.1:p.Gln42=
XM_005267996.1:c.126G>A XP_005268053.1:p.Gln42=
NM_001034852.3:c.126G>A MANE Select NP_001030024.1:p.Gln42=
NM_022137.6:c.126G>A NP_071420.1:p.Gln42=
Search 100 bp 5'
Search 100 bp 3'