Canonical Allele Identifier: CA16043070
Gene: MC4R HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.60371539A>G
GRCh37 chr18:g.58038772A>G
Revel Score:
ENST00000299766 (MANE Select) 0.844
gnomAD v2:
18:58038772 A / G
gnomAD v4:
chr18-60371539-A-G
Joint Max Group AF 0.00000442 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar RCV:
RCV000413435
RCV001753845
ClinVar Variation:
372803
dbSNP:
1057517991
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371539A>G , CM000680.2:g.60371539A>G GRCh38
NC_000018.9:g.58038772A>G , CM000680.1:g.58038772A>G GRCh37
NC_000018.8:g.56189752A>G NCBI36
NG_016441.1:g.6230T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.811T>C MANE Select ENSP00000299766.3:p.Cys271Arg
ENST00000299766.4:c.811T>C ENSP00000299766.3:p.Cys271Arg
NM_005912.2:c.811T>C NP_005903.2:p.Cys271Arg
NM_005912.3:c.811T>C MANE Select NP_005903.2:p.Cys271Arg
Search 100 bp 5'
Search 100 bp 3'