Canonical Allele Identifier: CA2307359039
Gene: MC4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371603G= , CM000680.2:g.60371603G= GRCh38
NC_000018.9:g.58038836G= , CM000680.1:g.58038836G= GRCh37
NC_000018.8:g.56189816G= NCBI36
NG_016441.1:g.6166C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.747C= MANE Select ENSP00000299766.3:p.Ile249=
ENST00000299766.4:c.747C= ENSP00000299766.3:p.Ile249=
NM_005912.2:c.747C= NP_005903.2:p.Ile249=
NM_005912.3:c.747C= MANE Select NP_005903.2:p.Ile249=