Canonical Allele Identifier: CA301530036
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 586137
ClinVar RCV Id: RCV000712268
dbSNP Id: rs868660454
gnomAD v4: 18-60371855-C-T
MyVariant Identifiers: chr18:g.58039088C>T (hg19) chr18:g.60371855C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371855C>T , CM000680.2:g.60371855C>T GRCh38
NC_000018.9:g.58039088C>T , CM000680.1:g.58039088C>T GRCh37
NC_000018.8:g.56190068C>T NCBI36
NG_016441.1:g.5914G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.495G>A MANE Select ENSP00000299766.3:p.Arg165=
ENST00000299766.4:c.495G>A ENSP00000299766.3:p.Arg165=
NM_005912.2:c.495G>A NP_005903.2:p.Arg165=
NM_005912.3:c.495G>A MANE Select NP_005903.2:p.Arg165=
Search 100 bp 5'
Search 100 bp 3'