Canonical Allele Identifier: CA402718986

Gene: MC4R

Linked Data

• dbSNP Id: rs1378696771
• gnomAD v2: 18-58038751-C-G
• gnomAD v4: 18-60371518-C-G
• MyVariant Identifiers: chr18:g.58038751C>G (hg19) ; chr18:g.60371518C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371518C>G , CM000680.2:g.60371518C>G	GRCh38
NC_000018.9:g.58038751C>G , CM000680.1:g.58038751C>G	GRCh37
NC_000018.8:g.56189731C>G	NCBI36
NG_016441.1:g.6251G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.832G>C MANE Select	ENSP00000299766.3:p.Val278Leu
ENST00000299766.4:c.832G>C	ENSP00000299766.3:p.Val278Leu
NM_005912.2:c.832G>C	NP_005903.2:p.Val278Leu
NM_005912.3:c.832G>C MANE Select	NP_005903.2:p.Val278Leu