Canonical Allele Identifier: CA301530022
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs76500026
gnomAD v2: 18-58038867-G-T
gnomAD v4: 18-60371634-G-T
MyVariant Identifiers: chr18:g.58038867G>T (hg19) chr18:g.60371634G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371634G>T , CM000680.2:g.60371634G>T GRCh38
NC_000018.9:g.58038867G>T , CM000680.1:g.58038867G>T GRCh37
NC_000018.8:g.56189847G>T NCBI36
NG_016441.1:g.6135C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.716C>A MANE Select ENSP00000299766.3:p.Ala239Asp
ENST00000299766.4:c.716C>A ENSP00000299766.3:p.Ala239Asp
NM_005912.2:c.716C>A NP_005903.2:p.Ala239Asp
NM_005912.3:c.716C>A MANE Select NP_005903.2:p.Ala239Asp
Search 100 bp 5'
Search 100 bp 3'