Canonical Allele Identifier: CA402719640
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371832A>T , CM000680.2:g.60371832A>T GRCh38
NC_000018.9:g.58039065A>T , CM000680.1:g.58039065A>T GRCh37
NC_000018.8:g.56190045A>T NCBI36
NG_016441.1:g.5937T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.518T>A MANE Select ENSP00000299766.3:p.Ile173Asn
ENST00000299766.4:c.518T>A ENSP00000299766.3:p.Ile173Asn
NM_005912.2:c.518T>A NP_005903.2:p.Ile173Asn
NM_005912.3:c.518T>A MANE Select NP_005903.2:p.Ile173Asn