Canonical Allele Identifier: CA8980874
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 892153
ClinVar RCV Id: RCV001127990
dbSNP Id: rs768687497
ExAC: 18:58038938 C / T
gnomAD v2: 18-58038938-C-T
gnomAD v3: 18-60371705-C-T
gnomAD v4: 18-60371705-C-T
MyVariant Identifiers: chr18:g.58038938C>T (hg19) chr18:g.60371705C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371705C>T , CM000680.2:g.60371705C>T GRCh38
NC_000018.9:g.58038938C>T , CM000680.1:g.58038938C>T GRCh37
NC_000018.8:g.56189918C>T NCBI36
NG_016441.1:g.6064G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.645G>A MANE Select ENSP00000299766.3:p.Met215Ile
ENST00000299766.4:c.645G>A ENSP00000299766.3:p.Met215Ile
NM_005912.2:c.645G>A NP_005903.2:p.Met215Ile
NM_005912.3:c.645G>A MANE Select NP_005903.2:p.Met215Ile
Search 100 bp 5'
Search 100 bp 3'