Canonical Allele Identifier: CA402719425
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371733G>A , CM000680.2:g.60371733G>A GRCh38
NC_000018.9:g.58038966G>A , CM000680.1:g.58038966G>A GRCh37
NC_000018.8:g.56189946G>A NCBI36
NG_016441.1:g.6036C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.617C>T MANE Select ENSP00000299766.3:p.Ala206Val
ENST00000299766.4:c.617C>T ENSP00000299766.3:p.Ala206Val
NM_005912.2:c.617C>T NP_005903.2:p.Ala206Val
NM_005912.3:c.617C>T MANE Select NP_005903.2:p.Ala206Val