Canonical Allele Identifier: CA213428
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 14319
ClinVar RCV Id: RCV000015395 RCV000435394 RCV001262822 RCV001699179
dbSNP Id: rs13447325
ExAC: 18:58039473 T / A
gnomAD v2: 18-58039473-T-A
gnomAD v3: 18-60372240-T-A
gnomAD v4: 18-60372240-T-A
MyVariant Identifiers: chr18:g.58039473T>A (hg19) chr18:g.60372240T>A (hg38)
PubMed: PMID:10199800 PMID:12646665 PMID:12970296 PMID:16507637 PMID:18801902 PMID:19301229 PMID:20966905
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372240T>A , CM000680.2:g.60372240T>A GRCh38
NC_000018.9:g.58039473T>A , CM000680.1:g.58039473T>A GRCh37
NC_000018.8:g.56190453T>A NCBI36
NG_016441.1:g.5529A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.110A>T MANE Select ENSP00000299766.3:p.Asp37Val
ENST00000299766.4:c.110A>T ENSP00000299766.3:p.Asp37Val
NM_005912.2:c.110A>T NP_005903.2:p.Asp37Val
NM_005912.3:c.110A>T MANE Select NP_005903.2:p.Asp37Val
Search 100 bp 5'
Search 100 bp 3'