Canonical Allele Identifier: CA402719015
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371532T>A , CM000680.2:g.60371532T>A GRCh38
NC_000018.9:g.58038765T>A , CM000680.1:g.58038765T>A GRCh37
NC_000018.8:g.56189745T>A NCBI36
NG_016441.1:g.6237A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.818A>T MANE Select ENSP00000299766.3:p.Gln273Leu
ENST00000299766.4:c.818A>T ENSP00000299766.3:p.Gln273Leu
NM_005912.2:c.818A>T NP_005903.2:p.Gln273Leu
NM_005912.3:c.818A>T MANE Select NP_005903.2:p.Gln273Leu