Canonical Allele Identifier: CA8980794
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs776032308
ExAC: 18:58038589 A / G
gnomAD v2: 18-58038589-A-G
gnomAD v3: 18-60371356-A-G
gnomAD v4: 18-60371356-A-G
MyVariant Identifiers: chr18:g.58038589A>G (hg19) chr18:g.60371356A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371356A>G , CM000680.2:g.60371356A>G GRCh38
NC_000018.9:g.58038589A>G , CM000680.1:g.58038589A>G GRCh37
NC_000018.8:g.56189569A>G NCBI36
NG_016441.1:g.6413T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.994T>C MANE Select ENSP00000299766.3:p.Tyr332His
ENST00000299766.4:c.994T>C ENSP00000299766.3:p.Tyr332His
NM_005912.2:c.994T>C NP_005903.2:p.Tyr332His
NM_005912.3:c.994T>C MANE Select NP_005903.2:p.Tyr332His
Search 100 bp 5'
Search 100 bp 3'