Canonical Allele Identifier: CA504305494
Gene: MC4R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.58038932C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371699C>T , CM000680.2:g.60371699C>T GRCh38
NC_000018.9:g.58038932C>T , CM000680.1:g.58038932C>T GRCh37
NC_000018.8:g.56189912C>T NCBI36
NG_016441.1:g.6070G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.651G>A MANE Select ENSP00000299766.3:p.Leu217=
ENST00000299766.4:c.651G>A ENSP00000299766.3:p.Leu217=
NM_005912.2:c.651G>A NP_005903.2:p.Leu217=
NM_005912.3:c.651G>A MANE Select NP_005903.2:p.Leu217=