Canonical Allele Identifier: CA8980829
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 1323269
ClinVar RCV Id: RCV001783633
dbSNP Id: rs769342968
ExAC: 18:58038752 A / T
gnomAD v2: 18-58038752-A-T
gnomAD v4: 18-60371519-A-T
MyVariant Identifiers: chr18:g.58038752A>T (hg19) chr18:g.60371519A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371519A>T , CM000680.2:g.60371519A>T GRCh38
NC_000018.9:g.58038752A>T , CM000680.1:g.58038752A>T GRCh37
NC_000018.8:g.56189732A>T NCBI36
NG_016441.1:g.6250T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.831T>A MANE Select ENSP00000299766.3:p.Cys277Ter
ENST00000299766.4:c.831T>A ENSP00000299766.3:p.Cys277Ter
NM_005912.2:c.831T>A NP_005903.2:p.Cys277Ter
NM_005912.3:c.831T>A MANE Select NP_005903.2:p.Cys277Ter
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Search 100 bp 3'