Canonical Allele Identifier: CA402719705
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 499550
dbSNP Id: rs1555691402

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371865G>A , CM000680.2:g.60371865G>A GRCh38
NC_000018.9:g.58039098G>A , CM000680.1:g.58039098G>A GRCh37
NC_000018.8:g.56190078G>A NCBI36
NG_016441.1:g.5904C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.485C>T MANE Select ENSP00000299766.3:p.Thr162Ile
ENST00000299766.4:c.485C>T ENSP00000299766.3:p.Thr162Ile
NM_005912.2:c.485C>T NP_005903.2:p.Thr162Ile
NM_005912.3:c.485C>T MANE Select NP_005903.2:p.Thr162Ile