Canonical Allele Identifier: CA8980782
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs749878585
ExAC: 18:58038534 A / G
MyVariant Identifiers: chr18:g.58038534A>G (hg19) chr18:g.60371301A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371301A>G , CM000680.2:g.60371301A>G GRCh38
NC_000018.9:g.58038534A>G , CM000680.1:g.58038534A>G GRCh37
NC_000018.8:g.56189514A>G NCBI36
NG_016441.1:g.6468T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.*50T>C MANE Select ENSP00000299766.3:n.*50T>C
ENST00000299766.4:c.*50T>C ENSP00000299766.3:n.*50T>C
NM_005912.3:c.*50T>C MANE Select NP_005903.2:n.*50T>C
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