Canonical Allele Identifier: CA214825
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 218330
dbSNP Id: rs2229616

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372043C>T , CM000680.2:g.60372043C>T GRCh38
NC_000018.9:g.58039276C>T , CM000680.1:g.58039276C>T GRCh37
NC_000018.8:g.56190256C>T NCBI36
NG_016441.1:g.5726G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.307G>A MANE Select ENSP00000299766.3:p.Val103Ile
ENST00000299766.4:c.307G>A ENSP00000299766.3:p.Val103Ile
NM_005912.2:c.307G>A NP_005903.2:p.Val103Ile
NM_005912.3:c.307G>A MANE Select NP_005903.2:p.Val103Ile