Canonical Allele Identifier: CA214140
Gene: MC4R HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.60371812A>G
GRCh37 chr18:g.58039045A>G
Revel Score:
ENST00000299766 (MANE Select) 0.592
gnomAD v2:
18:58039045 A / G
gnomAD v4:
chr18-60371812-A-G
Joint Max Group AF 0.00000878 (NFE)
Exomes Max Group AF 0.00000931 (NFE)
ClinVar RCV:
RCV000030155
ClinVar Variation:
36483
dbSNP:
193922685
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371812A>G , CM000680.2:g.60371812A>G GRCh38
NC_000018.9:g.58039045A>G , CM000680.1:g.58039045A>G GRCh37
NC_000018.8:g.56190025A>G NCBI36
NG_016441.1:g.5957T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.538T>C MANE Select ENSP00000299766.3:p.Ser180Pro
ENST00000299766.4:c.538T>C ENSP00000299766.3:p.Ser180Pro
NM_005912.2:c.538T>C NP_005903.2:p.Ser180Pro
NM_005912.3:c.538T>C MANE Select NP_005903.2:p.Ser180Pro
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