Canonical Allele Identifier: CA8980861
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 3046210
ClinVar RCV Id: RCV003951834
dbSNP Id: rs758426526
ExAC: 18:58038877 G / A
gnomAD v2: 18-58038877-G-A
gnomAD v3: 18-60371644-G-A
gnomAD v4: 18-60371644-G-A
COSMIC: COSM989361
MyVariant Identifiers: chr18:g.58038877G>A (hg19) chr18:g.60371644G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371644G>A , CM000680.2:g.60371644G>A GRCh38
NC_000018.9:g.58038877G>A , CM000680.1:g.58038877G>A GRCh37
NC_000018.8:g.56189857G>A NCBI36
NG_016441.1:g.6125C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.706C>T MANE Select ENSP00000299766.3:p.Arg236Cys
ENST00000299766.4:c.706C>T ENSP00000299766.3:p.Arg236Cys
NM_005912.2:c.706C>T NP_005903.2:p.Arg236Cys
NM_005912.3:c.706C>T MANE Select NP_005903.2:p.Arg236Cys
Search 100 bp 5'
Search 100 bp 3'