Canonical Allele Identifier: CA402718756
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371411G>T , CM000680.2:g.60371411G>T GRCh38
NC_000018.9:g.58038644G>T , CM000680.1:g.58038644G>T GRCh37
NC_000018.8:g.56189624G>T NCBI36
NG_016441.1:g.6358C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.939C>A MANE Select ENSP00000299766.3:p.Phe313Leu
ENST00000299766.4:c.939C>A ENSP00000299766.3:p.Phe313Leu
NM_005912.2:c.939C>A NP_005903.2:p.Phe313Leu
NM_005912.3:c.939C>A MANE Select NP_005903.2:p.Phe313Leu