Canonical Allele Identifier: CA402718652
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs1915332337

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371361C>A , CM000680.2:g.60371361C>A GRCh38
NC_000018.9:g.58038594C>A , CM000680.1:g.58038594C>A GRCh37
NC_000018.8:g.56189574C>A NCBI36
NG_016441.1:g.6408G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.989G>T MANE Select ENSP00000299766.3:p.Ser330Ile
ENST00000299766.4:c.989G>T ENSP00000299766.3:p.Ser330Ile
NM_005912.2:c.989G>T NP_005903.2:p.Ser330Ile
NM_005912.3:c.989G>T MANE Select NP_005903.2:p.Ser330Ile