Canonical Allele Identifier: CA9917109
Gene: MC3R HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.56249736T>C
GRCh37 chr20:g.54824792T>C
Revel Score:
ENST00000243911 (MANE Select) 0.784
gnomAD v2:
20:54824792 T / C
gnomAD v3:
20:56249736 T / C
gnomAD v4:
chr20-56249736-T-C
Joint Max Group AF 0.00014018 (NFE)
Genomes Max Group AF 0.00015873 (NFE)
Exomes Max Group AF 0.00013438 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.56249736T>C , CM000682.2:g.56249736T>C GRCh38
NC_000020.10:g.54824792T>C , CM000682.1:g.54824792T>C GRCh37
NC_000020.9:g.54258199T>C NCBI36
NG_012200.1:g.6005T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243911.2:c.893T>C MANE Select ENSP00000243911.2:p.Ile298Thr
NM_019888.3:c.893T>C MANE Select NP_063941.3:p.Ile298Thr
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