Canonical Allele Identifier: CA402719356
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371700A>C , CM000680.2:g.60371700A>C GRCh38
NC_000018.9:g.58038933A>C , CM000680.1:g.58038933A>C GRCh37
NC_000018.8:g.56189913A>C NCBI36
NG_016441.1:g.6069T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.650T>G MANE Select ENSP00000299766.3:p.Leu217Arg
ENST00000299766.4:c.650T>G ENSP00000299766.3:p.Leu217Arg
NM_005912.2:c.650T>G NP_005903.2:p.Leu217Arg
NM_005912.3:c.650T>G MANE Select NP_005903.2:p.Leu217Arg