Canonical Allele Identifier: CA402718836
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 2584829
ClinVar RCV Id: RCV003340729 RCV003420664
dbSNP Id: rs1326028718
gnomAD v2: 18-58038684-A-G
gnomAD v4: 18-60371451-A-G
MyVariant Identifiers: chr18:g.58038684A>G (hg19) chr18:g.60371451A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371451A>G , CM000680.2:g.60371451A>G GRCh38
NC_000018.9:g.58038684A>G , CM000680.1:g.58038684A>G GRCh37
NC_000018.8:g.56189664A>G NCBI36
NG_016441.1:g.6318T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.899T>C MANE Select ENSP00000299766.3:p.Leu300Pro
ENST00000299766.4:c.899T>C ENSP00000299766.3:p.Leu300Pro
NM_005912.2:c.899T>C NP_005903.2:p.Leu300Pro
NM_005912.3:c.899T>C MANE Select NP_005903.2:p.Leu300Pro
Search 100 bp 5'
Search 100 bp 3'