Canonical Allele Identifier: CA8980846
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 435828
ClinVar RCV Id: RCV000015413 RCV000500812 RCV001249014 RCV002510907 RCV003935293
dbSNP Id: rs13447339
ExAC: 18:58038831 ATC / A
gnomAD v2: 18-58038831-ATC-A
gnomAD v3: 18-60371598-ATC-A
gnomAD v4: 18-60371598-ATC-A
MyVariant Identifiers: chr18:g.58038832_58038833del (hg19) chr18:g.60371599_60371600del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371599_60371600del , CM000680.2:g.60371599_60371600del GRCh38
NC_000018.9:g.58038832_58038833del , CM000680.1:g.58038832_58038833del GRCh37
NC_000018.8:g.56189812_56189813del NCBI36
NG_016441.1:g.6169_6170del

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.750_751del MANE Select ENSP00000299766.3:p.Ile251TrpfsTer?
ENST00000299766.4:c.750_751del ENSP00000299766.3:p.Ile251TrpfsTer?
NM_005912.2:c.750_751del NP_005903.2:p.Ile251TrpfsTer?
NM_005912.3:c.750_751del MANE Select NP_005903.2:p.Ile251TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'