Canonical Allele Identifier: CA402719498
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 930151
ClinVar RCV Id: RCV001195614
dbSNP Id: rs1915346892
MyVariant Identifiers: chr18:g.58038998G>C (hg19) chr18:g.60371765G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371765G>C , CM000680.2:g.60371765G>C GRCh38
NC_000018.9:g.58038998G>C , CM000680.1:g.58038998G>C GRCh37
NC_000018.8:g.56189978G>C NCBI36
NG_016441.1:g.6004C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.585C>G MANE Select ENSP00000299766.3:p.Ile195Met
ENST00000299766.4:c.585C>G ENSP00000299766.3:p.Ile195Met
NM_005912.2:c.585C>G NP_005903.2:p.Ile195Met
NM_005912.3:c.585C>G MANE Select NP_005903.2:p.Ile195Met
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