Canonical Allele Identifier: CA9916933
Gene: MC3R HGNC NCBI
COSMIC:
COSM4985035 (not active)
MyVariant.info:
GRCh38 chr20:g.56248973G>A
GRCh37 chr20:g.54824029G>A
Revel Score:
ENST00000243911 (MANE Select) 0.089
gnomAD v2:
20:54824029 G / A
gnomAD v3:
20:56248973 G / A
gnomAD v4:
chr20-56248973-G-A
Joint Max Group AF 0.42443139 (AFR)
Genomes Max Group AF 0.41815597 (AFR)
Exomes Max Group AF 0.42858869 (AFR)
ClinVar RCV:
RCV001611687
ClinVar Variation:
1227705
dbSNP:
3827103
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.56248973G>A , CM000682.2:g.56248973G>A GRCh38
NC_000020.10:g.54824029G>A , CM000682.1:g.54824029G>A GRCh37
NC_000020.9:g.54257436G>A NCBI36
NG_012200.1:g.5242G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243911.2:c.130G>A MANE Select ENSP00000243911.2:p.Val44Ile
NM_019888.3:c.130G>A MANE Select NP_063941.3:p.Val44Ile
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