Canonical Allele Identifier: CA8980907

Gene: MC4R

Linked Data

• dbSNP Id: rs528907583
• ExAC: 18:58039079 G / T
• gnomAD v2: 18-58039079-G-T
• gnomAD v3: 18-60371846-G-T
• gnomAD v4: 18-60371846-G-T
• MyVariant Identifiers: chr18:g.58039079G>T (hg19) ; chr18:g.60371846G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371846G>T , CM000680.2:g.60371846G>T	GRCh38
NC_000018.9:g.58039079G>T , CM000680.1:g.58039079G>T	GRCh37
NC_000018.8:g.56190059G>T	NCBI36
NG_016441.1:g.5923C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.504C>A MANE Select	ENSP00000299766.3:p.Ile168=
ENST00000299766.4:c.504C>A	ENSP00000299766.3:p.Ile168=
NM_005912.2:c.504C>A	NP_005903.2:p.Ile168=
NM_005912.3:c.504C>A MANE Select	NP_005903.2:p.Ile168=