Canonical Allele Identifier: CA8980845
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 1709503
dbSNP Id: rs13447336

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371596C>T , CM000680.2:g.60371596C>T GRCh38
NC_000018.9:g.58038829C>T , CM000680.1:g.58038829C>T GRCh37
NC_000018.8:g.56189809C>T NCBI36
NG_016441.1:g.6173G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.754G>A MANE Select ENSP00000299766.3:p.Gly252Ser
ENST00000299766.4:c.754G>A ENSP00000299766.3:p.Gly252Ser
NM_005912.2:c.754G>A NP_005903.2:p.Gly252Ser
NM_005912.3:c.754G>A MANE Select NP_005903.2:p.Gly252Ser