Canonical Allele Identifier: CA402720214

Gene: MC4R

Linked Data

• MyVariant Identifiers: chr18:g.58039333A>T (hg19) ; chr18:g.60372100A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60372100A>T , CM000680.2:g.60372100A>T	GRCh38
NC_000018.9:g.58039333A>T , CM000680.1:g.58039333A>T	GRCh37
NC_000018.8:g.56190313A>T	NCBI36
NG_016441.1:g.5669T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.250T>A MANE Select	ENSP00000299766.3:p.Cys84Ser
ENST00000299766.4:c.250T>A	ENSP00000299766.3:p.Cys84Ser
NM_005912.2:c.250T>A	NP_005903.2:p.Cys84Ser
NM_005912.3:c.250T>A MANE Select	NP_005903.2:p.Cys84Ser