Canonical Allele Identifier: CA402719215
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371629T>A , CM000680.2:g.60371629T>A GRCh38
NC_000018.9:g.58038862T>A , CM000680.1:g.58038862T>A GRCh37
NC_000018.8:g.56189842T>A NCBI36
NG_016441.1:g.6140A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.721A>T MANE Select ENSP00000299766.3:p.Met241Leu
ENST00000299766.4:c.721A>T ENSP00000299766.3:p.Met241Leu
NM_005912.2:c.721A>T NP_005903.2:p.Met241Leu
NM_005912.3:c.721A>T MANE Select NP_005903.2:p.Met241Leu