Canonical Allele Identifier: CA214823
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 218329
dbSNP Id: rs52820871

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