Canonical Allele Identifier: CA402720465
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372219A>T , CM000680.2:g.60372219A>T GRCh38
NC_000018.9:g.58039452A>T , CM000680.1:g.58039452A>T GRCh37
NC_000018.8:g.56190432A>T NCBI36
NG_016441.1:g.5550T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.131T>A MANE Select ENSP00000299766.3:p.Leu44His
ENST00000299766.4:c.131T>A ENSP00000299766.3:p.Leu44His
NM_005912.2:c.131T>A NP_005903.2:p.Leu44His
NM_005912.3:c.131T>A MANE Select NP_005903.2:p.Leu44His