Canonical Allele Identifier: CA8980952
Gene: MC4R HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.60372069C>T
GRCh37 chr18:g.58039302C>T
Revel Score:
ENST00000299766 (MANE Select) 0.515
gnomAD v2:
18:58039302 C / T
gnomAD v4:
chr18-60372069-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000432683
ClinVar Variation:
381723
dbSNP:
772213710
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372069C>T , CM000680.2:g.60372069C>T GRCh38
NC_000018.9:g.58039302C>T , CM000680.1:g.58039302C>T GRCh37
NC_000018.8:g.56190282C>T NCBI36
NG_016441.1:g.5700G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.281G>A MANE Select ENSP00000299766.3:p.Ser94Asn
ENST00000299766.4:c.281G>A ENSP00000299766.3:p.Ser94Asn
NM_005912.2:c.281G>A NP_005903.2:p.Ser94Asn
NM_005912.3:c.281G>A MANE Select NP_005903.2:p.Ser94Asn
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