Canonical Allele Identifier: CA402720454

Gene: MC4R

Linked Data

• dbSNP Id: rs1163674339
• gnomAD v2: 18-58039447-C-T
• gnomAD v4: 18-60372214-C-T
• MyVariant Identifiers: chr18:g.58039447C>T (hg19) ; chr18:g.60372214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60372214C>T , CM000680.2:g.60372214C>T	GRCh38
NC_000018.9:g.58039447C>T , CM000680.1:g.58039447C>T	GRCh37
NC_000018.8:g.56190427C>T	NCBI36
NG_016441.1:g.5555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.136G>A MANE Select	ENSP00000299766.3:p.Val46Ile
ENST00000299766.4:c.136G>A	ENSP00000299766.3:p.Val46Ile
NM_005912.2:c.136G>A	NP_005903.2:p.Val46Ile
NM_005912.3:c.136G>A MANE Select	NP_005903.2:p.Val46Ile