Canonical Allele Identifier: CA402719224

Gene: MC4R

Linked Data

• dbSNP Id: rs1184375973
• gnomAD v2: 18-58038865-T-C
• gnomAD v4: 18-60371632-T-C
• MyVariant Identifiers: chr18:g.58038865T>C (hg19) ; chr18:g.60371632T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371632T>C , CM000680.2:g.60371632T>C	GRCh38
NC_000018.9:g.58038865T>C , CM000680.1:g.58038865T>C	GRCh37
NC_000018.8:g.56189845T>C	NCBI36
NG_016441.1:g.6137A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.718A>G MANE Select	ENSP00000299766.3:p.Asn240Asp
ENST00000299766.4:c.718A>G	ENSP00000299766.3:p.Asn240Asp
NM_005912.2:c.718A>G	NP_005903.2:p.Asn240Asp
NM_005912.3:c.718A>G MANE Select	NP_005903.2:p.Asn240Asp