Canonical Allele Identifier: CA402720241

Gene: MC4R

Linked Data

• ClinVar Variation Id: 435830
• ClinVar RCV Id: RCV000499779 ; RCV001857128 ; RCV002490836 ; RCV003409696
• dbSNP Id: rs1368643838
• gnomAD v2: 18-58039344-T-C
• gnomAD v3: 18-60372111-T-C
• gnomAD v4: 18-60372111-T-C
• MyVariant Identifiers: chr18:g.58039344T>C (hg19) ; chr18:g.60372111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60372111T>C , CM000680.2:g.60372111T>C	GRCh38
NC_000018.9:g.58039344T>C , CM000680.1:g.58039344T>C	GRCh37
NC_000018.8:g.56190324T>C	NCBI36
NG_016441.1:g.5658A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299766.5:c.239A>G MANE Select	ENSP00000299766.3:p.Tyr80Cys
ENST00000299766.4:c.239A>G	ENSP00000299766.3:p.Tyr80Cys
NM_005912.2:c.239A>G	NP_005903.2:p.Tyr80Cys
NM_005912.3:c.239A>G MANE Select	NP_005903.2:p.Tyr80Cys