Canonical Allele Identifier: CA210724
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 14334
ClinVar RCV Id: RCV000015410
dbSNP Id: rs121913566

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372165T>C , CM000680.2:g.60372165T>C GRCh38
NC_000018.9:g.58039398T>C , CM000680.1:g.58039398T>C GRCh37
NC_000018.8:g.56190378T>C NCBI36
NG_016441.1:g.5604A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.185A>G MANE Select ENSP00000299766.3:p.Asn62Ser
ENST00000299766.4:c.185A>G ENSP00000299766.3:p.Asn62Ser
NM_005912.2:c.185A>G NP_005903.2:p.Asn62Ser
NM_005912.3:c.185A>G MANE Select NP_005903.2:p.Asn62Ser