Canonical Allele Identifier: CA214751
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 14318
ClinVar RCV Id: RCV000015394 RCV000202583 RCV000255005 RCV002504792
dbSNP Id: rs13447324
ExAC: 18:58039478 G / T
gnomAD v2: 18-58039478-G-T
gnomAD v3: 18-60372245-G-T
gnomAD v4: 18-60372245-G-T
MyVariant Identifiers: chr18:g.58039478G>T (hg19) chr18:g.60372245G>T (hg38)
PubMed: PMID:10199800 PMID:10577903 PMID:12499395 PMID:12646665 PMID:12851297 PMID:12970296 PMID:15486053 PMID:16274851 PMID:16507637 PMID:18559663 PMID:18801902 PMID:19091795 PMID:19301229 PMID:20966905
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372245G>T , CM000680.2:g.60372245G>T GRCh38
NC_000018.9:g.58039478G>T , CM000680.1:g.58039478G>T GRCh37
NC_000018.8:g.56190458G>T NCBI36
NG_016441.1:g.5524C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.105C>A MANE Select ENSP00000299766.3:p.Tyr35Ter
ENST00000299766.4:c.105C>A ENSP00000299766.3:p.Tyr35Ter
NM_005912.2:c.105C>A NP_005903.2:p.Tyr35Ter
NM_005912.3:c.105C>A MANE Select NP_005903.2:p.Tyr35Ter
Search 100 bp 5'
Search 100 bp 3'