Canonical Allele Identifier: CA8980791
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs200949110
ExAC: 18:58038568 C / T
gnomAD v2: 18-58038568-C-T
gnomAD v3: 18-60371335-C-T
gnomAD v4: 18-60371335-C-T
COSMIC: COSN509343
MyVariant Identifiers: chr18:g.58038568C>T (hg19) chr18:g.60371335C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371335C>T , CM000680.2:g.60371335C>T GRCh38
NC_000018.9:g.58038568C>T , CM000680.1:g.58038568C>T GRCh37
NC_000018.8:g.56189548C>T NCBI36
NG_016441.1:g.6434G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.*16G>A MANE Select ENSP00000299766.3:n.*16G>A
ENST00000299766.4:c.*16G>A ENSP00000299766.3:n.*16G>A
NM_005912.2:c.*16G>A NP_005903.2:n.*16G>A
NM_005912.3:c.*16G>A MANE Select NP_005903.2:n.*16G>A
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