Canonical Allele Identifier: CA8980826
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 492863
ClinVar RCV Id: RCV000582923
dbSNP Id: rs756232889
ExAC: 18:58038745 A / G
gnomAD v2: 18-58038745-A-G
gnomAD v3: 18-60371512-A-G
gnomAD v4: 18-60371512-A-G
MyVariant Identifiers: chr18:g.58038745A>G (hg19) chr18:g.60371512A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371512A>G , CM000680.2:g.60371512A>G GRCh38
NC_000018.9:g.58038745A>G , CM000680.1:g.58038745A>G GRCh37
NC_000018.8:g.56189725A>G NCBI36
NG_016441.1:g.6257T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.838T>C MANE Select ENSP00000299766.3:p.Phe280Leu
ENST00000299766.4:c.838T>C ENSP00000299766.3:p.Phe280Leu
NM_005912.2:c.838T>C NP_005903.2:p.Phe280Leu
NM_005912.3:c.838T>C MANE Select NP_005903.2:p.Phe280Leu
Search 100 bp 5'
Search 100 bp 3'