Canonical Allele Identifier: CA402720148

Gene: MC4R

Linked Data

• COSMIC: COSM4701039
• MyVariant Identifiers: chr18:g.58039303T>C (hg19) ; chr18:g.60372070T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60372070T>C , CM000680.2:g.60372070T>C	GRCh38
NC_000018.9:g.58039303T>C , CM000680.1:g.58039303T>C	GRCh37
NC_000018.8:g.56190283T>C	NCBI36
NG_016441.1:g.5699A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.280A>G MANE Select	ENSP00000299766.3:p.Ser94Gly
ENST00000299766.4:c.280A>G	ENSP00000299766.3:p.Ser94Gly
NM_005912.2:c.280A>G	NP_005903.2:p.Ser94Gly
NM_005912.3:c.280A>G MANE Select	NP_005903.2:p.Ser94Gly