Canonical Allele Identifier: CA402718832
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371449T>A , CM000680.2:g.60371449T>A GRCh38
NC_000018.9:g.58038682T>A , CM000680.1:g.58038682T>A GRCh37
NC_000018.8:g.56189662T>A NCBI36
NG_016441.1:g.6320A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.901A>T MANE Select ENSP00000299766.3:p.Ile301Phe
ENST00000299766.4:c.901A>T ENSP00000299766.3:p.Ile301Phe
NM_005912.2:c.901A>T NP_005903.2:p.Ile301Phe
NM_005912.3:c.901A>T MANE Select NP_005903.2:p.Ile301Phe