Canonical Allele Identifier: CA210717
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 14324
dbSNP Id: rs121913561

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371529T>C , CM000680.2:g.60371529T>C GRCh38
NC_000018.9:g.58038762T>C , CM000680.1:g.58038762T>C GRCh37
NC_000018.8:g.56189742T>C NCBI36
NG_016441.1:g.6240A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.821A>G MANE Select ENSP00000299766.3:p.Asn274Ser
ENST00000299766.4:c.821A>G ENSP00000299766.3:p.Asn274Ser
NM_005912.2:c.821A>G NP_005903.2:p.Asn274Ser
NM_005912.3:c.821A>G MANE Select NP_005903.2:p.Asn274Ser