Canonical Allele Identifier: CA504305495
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs1171672015
gnomAD v2: 18-58038935-G-A
gnomAD v4: 18-60371702-G-A
COSMIC: COSM5607486
MyVariant Identifiers: chr18:g.58038935G>A (hg19) chr18:g.60371702G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371702G>A , CM000680.2:g.60371702G>A GRCh38
NC_000018.9:g.58038935G>A , CM000680.1:g.58038935G>A GRCh37
NC_000018.8:g.56189915G>A NCBI36
NG_016441.1:g.6067C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.648C>T MANE Select ENSP00000299766.3:p.Phe216=
ENST00000299766.4:c.648C>T ENSP00000299766.3:p.Phe216=
NM_005912.2:c.648C>T NP_005903.2:p.Phe216=
NM_005912.3:c.648C>T MANE Select NP_005903.2:p.Phe216=
Search 100 bp 5'
Search 100 bp 3'