Canonical Allele Identifier: CA8980909
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 327713
ClinVar RCV Id: RCV000332082 RCV002288974 RCV003556341
dbSNP Id: rs747681609
ExAC: 18:58039089 C / T
gnomAD v2: 18-58039089-C-T
gnomAD v3: 18-60371856-C-T
gnomAD v4: 18-60371856-C-T
COSMIC: COSM5564645
MyVariant Identifiers: chr18:g.58039089C>T (hg19) chr18:g.60371856C>T (hg38)
PubMed: PMID:10903343 PMID:12588803 PMID:12646665 PMID:12690102 PMID:15448103 PMID:15486053 PMID:17628007 PMID:25332687 PMID:26788538
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371856C>T , CM000680.2:g.60371856C>T GRCh38
NC_000018.9:g.58039089C>T , CM000680.1:g.58039089C>T GRCh37
NC_000018.8:g.56190069C>T NCBI36
NG_016441.1:g.5913G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.494G>A MANE Select ENSP00000299766.3:p.Arg165Gln
ENST00000299766.4:c.494G>A ENSP00000299766.3:p.Arg165Gln
NM_005912.2:c.494G>A NP_005903.2:p.Arg165Gln
NM_005912.3:c.494G>A MANE Select NP_005903.2:p.Arg165Gln
Search 100 bp 5'
Search 100 bp 3'