Canonical Allele Identifier: CA214823
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 218329
ClinVar RCV Id: RCV000202590 RCV000419291 RCV000445524 RCV000501342 RCV002500636 RCV003977551
dbSNP Id: rs52820871
ExAC: 18:58038832 T / G
gnomAD v2: 18-58038832-T-G
gnomAD v3: 18-60371599-T-G
gnomAD v4: 18-60371599-T-G
MyVariant Identifiers: chr18:g.58038832T>G (hg19) chr18:g.60371599T>G (hg38)
PubMed: PMID:10199800 PMID:12646666 PMID:15037865
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371599T>G , CM000680.2:g.60371599T>G GRCh38
NC_000018.9:g.58038832T>G , CM000680.1:g.58038832T>G GRCh37
NC_000018.8:g.56189812T>G NCBI36
NG_016441.1:g.6170A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.751A>C MANE Select ENSP00000299766.3:p.Ile251Leu
ENST00000299766.4:c.751A>C ENSP00000299766.3:p.Ile251Leu
NM_005912.2:c.751A>C NP_005903.2:p.Ile251Leu
NM_005912.3:c.751A>C MANE Select NP_005903.2:p.Ile251Leu
Search 100 bp 5'
Search 100 bp 3'