Canonical Allele Identifier: CA402719164
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371604A>C , CM000680.2:g.60371604A>C GRCh38
NC_000018.9:g.58038837A>C , CM000680.1:g.58038837A>C GRCh37
NC_000018.8:g.56189817A>C NCBI36
NG_016441.1:g.6165T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.746T>G MANE Select ENSP00000299766.3:p.Ile249Ser
ENST00000299766.4:c.746T>G ENSP00000299766.3:p.Ile249Ser
NM_005912.2:c.746T>G NP_005903.2:p.Ile249Ser
NM_005912.3:c.746T>G MANE Select NP_005903.2:p.Ile249Ser