Canonical Allele Identifier: CA8980977
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs776051881
ExAC: 18:58039459 C / T
gnomAD v2: 18-58039459-C-T
gnomAD v3: 18-60372226-C-T
gnomAD v4: 18-60372226-C-T
COSMIC: COSM6450695
MyVariant Identifiers: chr18:g.58039459C>T (hg19) chr18:g.60372226C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372226C>T , CM000680.2:g.60372226C>T GRCh38
NC_000018.9:g.58039459C>T , CM000680.1:g.58039459C>T GRCh37
NC_000018.8:g.56190439C>T NCBI36
NG_016441.1:g.5543G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.124G>A MANE Select ENSP00000299766.3:p.Glu42Lys
ENST00000299766.4:c.124G>A ENSP00000299766.3:p.Glu42Lys
NM_005912.2:c.124G>A NP_005903.2:p.Glu42Lys
NM_005912.3:c.124G>A MANE Select NP_005903.2:p.Glu42Lys
Search 100 bp 5'
Search 100 bp 3'