Canonical Allele Identifier: CA8980917
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 749502
ClinVar RCV Id: RCV000926386 RCV001127992 RCV003925786
dbSNP Id: rs144393256
ExAC: 18:58039115 C / T
gnomAD v2: 18-58039115-C-T
gnomAD v3: 18-60371882-C-T
gnomAD v4: 18-60371882-C-T
MyVariant Identifiers: chr18:g.58039115C>T (hg19) chr18:g.60371882C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371882C>T , CM000680.2:g.60371882C>T GRCh38
NC_000018.9:g.58039115C>T , CM000680.1:g.58039115C>T GRCh37
NC_000018.8:g.56190095C>T NCBI36
NG_016441.1:g.5887G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.468G>A MANE Select ENSP00000299766.3:p.Gln156=
ENST00000299766.4:c.468G>A ENSP00000299766.3:p.Gln156=
NM_005912.2:c.468G>A NP_005903.2:p.Gln156=
NM_005912.3:c.468G>A MANE Select NP_005903.2:p.Gln156=
Search 100 bp 5'
Search 100 bp 3'