Canonical Allele Identifier: CA402719500

Gene: MC4R

Linked Data

• MyVariant Identifiers: chr18:g.58039000T>G (hg19) ; chr18:g.60371767T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371767T>G , CM000680.2:g.60371767T>G	GRCh38
NC_000018.9:g.58039000T>G , CM000680.1:g.58039000T>G	GRCh37
NC_000018.8:g.56189980T>G	NCBI36
NG_016441.1:g.6002A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.583A>C MANE Select	ENSP00000299766.3:p.Ile195Leu
ENST00000299766.4:c.583A>C	ENSP00000299766.3:p.Ile195Leu
NM_005912.2:c.583A>C	NP_005903.2:p.Ile195Leu
NM_005912.3:c.583A>C MANE Select	NP_005903.2:p.Ile195Leu