Canonical Allele Identifier: CA402718944
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs2143965988
gnomAD v4: 18-60371500-A-T
MyVariant Identifiers: chr18:g.58038733A>T (hg19) chr18:g.60371500A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371500A>T , CM000680.2:g.60371500A>T GRCh38
NC_000018.9:g.58038733A>T , CM000680.1:g.58038733A>T GRCh37
NC_000018.8:g.56189713A>T NCBI36
NG_016441.1:g.6269T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.850T>A MANE Select ENSP00000299766.3:p.Phe284Ile
ENST00000299766.4:c.850T>A ENSP00000299766.3:p.Phe284Ile
NM_005912.2:c.850T>A NP_005903.2:p.Phe284Ile
NM_005912.3:c.850T>A MANE Select NP_005903.2:p.Phe284Ile
Search 100 bp 5'
Search 100 bp 3'