Canonical Allele Identifier: CA214149

Gene: MC4R

Linked Data

• ClinVar Variation Id: 36488
• ClinVar RCV Id: RCV000030160 ; RCV001781324 ; RCV002281047 ; RCV003430643 ; RCV004017271
• dbSNP Id: rs52804924
• ExAC: 18:58038687 G / T
• gnomAD v2: 18-58038687-G-T
• gnomAD v3: 18-60371454-G-T
• gnomAD v4: 18-60371454-G-T
• MyVariant Identifiers: chr18:g.58038687G>T (hg19) ; chr18:g.60371454G>T (hg38)
• PubMed: PMID:17357083 ; PMID:18559663 ; PMID:18801902

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371454G>T , CM000680.2:g.60371454G>T	GRCh38
NC_000018.9:g.58038687G>T , CM000680.1:g.58038687G>T	GRCh37
NC_000018.8:g.56189667G>T	NCBI36
NG_016441.1:g.6315C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.896C>A MANE Select	ENSP00000299766.3:p.Pro299His
ENST00000299766.4:c.896C>A	ENSP00000299766.3:p.Pro299His
NM_005912.2:c.896C>A	NP_005903.2:p.Pro299His
NM_005912.3:c.896C>A MANE Select	NP_005903.2:p.Pro299His