Canonical Allele Identifier: CA8980897
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 976326
ClinVar RCV Id: RCV001253592
dbSNP Id: rs13447333
ExAC: 18:58039041 C / T
gnomAD v2: 18-58039041-C-T
gnomAD v4: 18-60371808-C-T
MyVariant Identifiers: chr18:g.58039041C>T (hg19) chr18:g.60371808C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371808C>T , CM000680.2:g.60371808C>T GRCh38
NC_000018.9:g.58039041C>T , CM000680.1:g.58039041C>T GRCh37
NC_000018.8:g.56190021C>T NCBI36
NG_016441.1:g.5961G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.542G>A MANE Select ENSP00000299766.3:p.Gly181Asp
ENST00000299766.4:c.542G>A ENSP00000299766.3:p.Gly181Asp
NM_005912.2:c.542G>A NP_005903.2:p.Gly181Asp
NM_005912.3:c.542G>A MANE Select NP_005903.2:p.Gly181Asp
Search 100 bp 5'
Search 100 bp 3'