Canonical Allele Identifier: CA210716

Gene: MC4R

Linked Data

• ClinVar Variation Id: 14323
• ClinVar RCV Id: RCV000015399 ; RCV003407337 ; RCV003546455
• dbSNP Id: rs121913560
• ExAC: 18:58039075 T / C
• gnomAD v2: 18-58039075-T-C
• gnomAD v3: 18-60371842-T-C
• gnomAD v4: 18-60371842-T-C
• MyVariant Identifiers: chr18:g.58039075T>C (hg19) ; chr18:g.60371842T>C (hg38)
• PubMed: PMID:11487744

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371842T>C , CM000680.2:g.60371842T>C	GRCh38
NC_000018.9:g.58039075T>C , CM000680.1:g.58039075T>C	GRCh37
NC_000018.8:g.56190055T>C	NCBI36
NG_016441.1:g.5927A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299766.5:c.508A>G MANE Select	ENSP00000299766.3:p.Ile170Val
ENST00000299766.4:c.508A>G	ENSP00000299766.3:p.Ile170Val
NM_005912.2:c.508A>G	NP_005903.2:p.Ile170Val
NM_005912.3:c.508A>G MANE Select	NP_005903.2:p.Ile170Val