Canonical Allele Identifier: CA402720454
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs1163674339

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372214C>T , CM000680.2:g.60372214C>T GRCh38
NC_000018.9:g.58039447C>T , CM000680.1:g.58039447C>T GRCh37
NC_000018.8:g.56190427C>T NCBI36
NG_016441.1:g.5555G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.136G>A MANE Select ENSP00000299766.3:p.Val46Ile
ENST00000299766.4:c.136G>A ENSP00000299766.3:p.Val46Ile
NM_005912.2:c.136G>A NP_005903.2:p.Val46Ile
NM_005912.3:c.136G>A MANE Select NP_005903.2:p.Val46Ile