Canonical Allele Identifier: CA214823

Gene: MC4R

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

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