Canonical Allele Identifier: CA8980847
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 549551
ClinVar RCV Id: RCV000664153 RCV000709739 RCV001756121 RCV003928155
dbSNP Id: rs772393451
ExAC: 18:58038834 A / T
gnomAD v2: 18-58038834-A-T
gnomAD v3: 18-60371601-A-T
gnomAD v4: 18-60371601-A-T
MyVariant Identifiers: chr18:g.58038834A>T (hg19) chr18:g.60371601A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371601A>T , CM000680.2:g.60371601A>T GRCh38
NC_000018.9:g.58038834A>T , CM000680.1:g.58038834A>T GRCh37
NC_000018.8:g.56189814A>T NCBI36
NG_016441.1:g.6168T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.749T>A MANE Select ENSP00000299766.3:p.Leu250Gln
ENST00000299766.4:c.749T>A ENSP00000299766.3:p.Leu250Gln
NM_005912.2:c.749T>A NP_005903.2:p.Leu250Gln
NM_005912.3:c.749T>A MANE Select NP_005903.2:p.Leu250Gln
Search 100 bp 5'
Search 100 bp 3'