Canonical Allele Identifier: CA504305378
Gene: MC4R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.58038896G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371663G>T , CM000680.2:g.60371663G>T GRCh38
NC_000018.9:g.58038896G>T , CM000680.1:g.58038896G>T GRCh37
NC_000018.8:g.56189876G>T NCBI36
NG_016441.1:g.6106C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.687C>A MANE Select ENSP00000299766.3:p.Leu229=
ENST00000299766.4:c.687C>A ENSP00000299766.3:p.Leu229=
NM_005912.2:c.687C>A NP_005903.2:p.Leu229=
NM_005912.3:c.687C>A MANE Select NP_005903.2:p.Leu229=