Canonical Allele Identifier: CA402718911
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371487A>T , CM000680.2:g.60371487A>T GRCh38
NC_000018.9:g.58038720A>T , CM000680.1:g.58038720A>T GRCh37
NC_000018.8:g.56189700A>T NCBI36
NG_016441.1:g.6282T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.863T>A MANE Select ENSP00000299766.3:p.Leu288His
ENST00000299766.4:c.863T>A ENSP00000299766.3:p.Leu288His
NM_005912.2:c.863T>A NP_005903.2:p.Leu288His
NM_005912.3:c.863T>A MANE Select NP_005903.2:p.Leu288His