Canonical Allele Identifier: CA2307359352
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs1915363587
gnomAD v4: 18-60372224-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372225del , CM000680.2:g.60372225del GRCh38
NC_000018.9:g.58039458del , CM000680.1:g.58039458del GRCh37
NC_000018.8:g.56190438del NCBI36
NG_016441.1:g.5544del

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.125del MANE Select ENSP00000299766.3:p.Glu42GlyfsTer11
ENST00000299766.4:c.125del ENSP00000299766.3:p.Glu42GlyfsTer11
NM_005912.2:c.125del NP_005903.2:p.Glu42GlyfsTer11
NM_005912.3:c.125del MANE Select NP_005903.2:p.Glu42GlyfsTer11
Search 100 bp 5'
Search 100 bp 3'