Canonical Allele Identifier: CA9916885
Gene: MC3R HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.56248749C>A
GRCh37 chr20:g.54823805C>A
gnomAD v2:
20:54823805 C / A
gnomAD v3:
20:56248749 C / A
gnomAD v4:
chr20-56248749-C-A
Joint Max Group AF 0.46027285 (AFR)
Genomes Max Group AF 0.45585229 (AFR)
Exomes Max Group AF 0.4623621 (AFR)
dbSNP:
3746619
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.56248749C>A , CM000682.2:g.56248749C>A GRCh38
NC_000020.10:g.54823805C>A , CM000682.1:g.54823805C>A GRCh37
NC_000020.9:g.54257212C>A NCBI36
NG_012200.1:g.5018C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243911.2:c.-95C>A MANE Select ENSP00000243911.2:n.-95C>A
NM_019888.3:c.-95C>A MANE Select NP_063941.3:n.-95C>A
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