Canonical Allele Identifier: CA214148
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 36487
ClinVar RCV Id: RCV000030159 RCV002281046 RCV002496462 RCV003415745 RCV004017270
dbSNP Id: rs193922687
ExAC: 18:58038746 G / GCA
gnomAD v2: 18-58038746-G-GCA
gnomAD v4: 18-60371513-G-GCA
MyVariant Identifiers: chr18:g.58038747_58038748dupCA (hg19) chr18:g.58038748_58038749insCA (hg19) chr18:g.58038746_58038747insCA (hg19) chr18:g.60371514_60371515dupCA (hg38) chr18:g.60371513_60371514insCA (hg38)
PubMed: PMID:12646665 PMID:18801902
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371520_60371521dup , CM000680.2:g.60371520_60371521dup GRCh38
NC_000018.9:g.58038753_58038754dup , CM000680.1:g.58038753_58038754dup GRCh37
NC_000018.8:g.56189733_56189734dup NCBI36
NG_016441.1:g.6254_6255dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.835_836dup MANE Select ENSP00000299766.3:p.Phe280AlafsTer12
ENST00000299766.4:c.835_836dup ENSP00000299766.3:p.Phe280AlafsTer12
NM_005912.2:c.835_836dup NP_005903.2:p.Phe280AlafsTer12
NM_005912.3:c.835_836dup MANE Select NP_005903.2:p.Phe280AlafsTer12
Search 100 bp 5'
Search 100 bp 3'