Canonical Allele Identifier: CA209140
Gene: MC4R HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.60372144A>C
GRCh37 chr18:g.58039377A>C
Revel Score:
ENST00000299766 (MANE Select) 0.669
ClinVar RCV:
RCV000194758
ClinVar Variation:
211442
dbSNP:
751160202
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372144A>C , CM000680.2:g.60372144A>C GRCh38
NC_000018.9:g.58039377A>C , CM000680.1:g.58039377A>C GRCh37
NC_000018.8:g.56190357A>C NCBI36
NG_016441.1:g.5625T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.206T>G MANE Select ENSP00000299766.3:p.Ile69Arg
ENST00000299766.4:c.206T>G ENSP00000299766.3:p.Ile69Arg
NM_005912.2:c.206T>G NP_005903.2:p.Ile69Arg
NM_005912.3:c.206T>G MANE Select NP_005903.2:p.Ile69Arg
Search 100 bp 5'
Search 100 bp 3'