Canonical Allele Identifier: CA214142
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 36484
ClinVar RCV Id: RCV000030156 RCV000445401 RCV000610107 RCV000889153 RCV003323279 RCV003974862
dbSNP Id: rs138281308
ExAC: 18:58038977 G / T
gnomAD v2: 18-58038977-G-T
gnomAD v3: 18-60371744-G-T
gnomAD v4: 18-60371744-G-T
MyVariant Identifiers: chr18:g.58038977G>T (hg19) chr18:g.60371744G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371744G>T , CM000680.2:g.60371744G>T GRCh38
NC_000018.9:g.58038977G>T , CM000680.1:g.58038977G>T GRCh37
NC_000018.8:g.56189957G>T NCBI36
NG_016441.1:g.6025C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.606C>A MANE Select ENSP00000299766.3:p.Phe202Leu
ENST00000299766.4:c.606C>A ENSP00000299766.3:p.Phe202Leu
NM_005912.2:c.606C>A NP_005903.2:p.Phe202Leu
NM_005912.3:c.606C>A MANE Select NP_005903.2:p.Phe202Leu
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