Canonical Allele Identifier: CA8980896
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs747231074
ExAC: 18:58039034 CA / C
gnomAD v2: 18-58039034-CA-C
gnomAD v4: 18-60371801-CA-C
MyVariant Identifiers: chr18:g.58039035del (hg19) chr18:g.60371802del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371805del , CM000680.2:g.60371805del GRCh38
NC_000018.9:g.58039038del , CM000680.1:g.58039038del GRCh37
NC_000018.8:g.56190018del NCBI36
NG_016441.1:g.5967del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.548del MANE Select ENSP00000299766.3:p.Leu183CysfsTer?
ENST00000299766.4:c.548del ENSP00000299766.3:p.Leu183CysfsTer?
NM_005912.2:c.548del NP_005903.2:p.Leu183CysfsTer?
NM_005912.3:c.548del MANE Select NP_005903.2:p.Leu183CysfsTer?
Search 100 bp 5'
Search 100 bp 3'