Canonical Allele Identifier: CA402718714
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371393G>T , CM000680.2:g.60371393G>T GRCh38
NC_000018.9:g.58038626G>T , CM000680.1:g.58038626G>T GRCh37
NC_000018.8:g.56189606G>T NCBI36
NG_016441.1:g.6376C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.957C>A MANE Select ENSP00000299766.3:p.Cys319Ter
ENST00000299766.4:c.957C>A ENSP00000299766.3:p.Cys319Ter
NM_005912.2:c.957C>A NP_005903.2:p.Cys319Ter
NM_005912.3:c.957C>A MANE Select NP_005903.2:p.Cys319Ter