Canonical Allele Identifier: CA402718713
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.957C>G MANE Select ENSP00000299766.3:p.Cys319Trp
ENST00000299766.4:c.957C>G ENSP00000299766.3:p.Cys319Trp
NM_005912.2:c.957C>G NP_005903.2:p.Cys319Trp
NM_005912.3:c.957C>G MANE Select NP_005903.2:p.Cys319Trp