Canonical Allele Identifier: CA210716
Gene: MC4R HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.60371842T>C
GRCh37 chr18:g.58039075T>C
Revel Score:
ENST00000299766 (MANE Select) 0.403
gnomAD v2:
18:58039075 T / C
gnomAD v3:
18:60371842 T / C
gnomAD v4:
chr18-60371842-T-C
Joint Max Group AF 0.00079332 (AFR)
Genomes Max Group AF 0.00037801 (AFR)
Exomes Max Group AF 0.00116356 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371842T>C , CM000680.2:g.60371842T>C GRCh38
NC_000018.9:g.58039075T>C , CM000680.1:g.58039075T>C GRCh37
NC_000018.8:g.56190055T>C NCBI36
NG_016441.1:g.5927A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.508A>G MANE Select ENSP00000299766.3:p.Ile170Val
ENST00000299766.4:c.508A>G ENSP00000299766.3:p.Ile170Val
NM_005912.2:c.508A>G NP_005903.2:p.Ile170Val
NM_005912.3:c.508A>G MANE Select NP_005903.2:p.Ile170Val
Search 100 bp 5'
Search 100 bp 3'