Canonical Allele Identifier: CA8980817

Gene: MC4R

Linked Data

• ClinVar Variation Id: 549550
• ClinVar RCV Id: RCV000664152 ; RCV002499143
• dbSNP Id: rs368264587
• ExAC: 18:58038700 A / G
• gnomAD v2: 18-58038700-A-G
• gnomAD v3: 18-60371467-A-G
• gnomAD v4: 18-60371467-A-G
• MyVariant Identifiers: chr18:g.58038700A>G (hg19) ; chr18:g.60371467A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371467A>G , CM000680.2:g.60371467A>G	GRCh38
NC_000018.9:g.58038700A>G , CM000680.1:g.58038700A>G	GRCh37
NC_000018.8:g.56189680A>G	NCBI36
NG_016441.1:g.6302T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.883T>C MANE Select	ENSP00000299766.3:p.Ser295Pro
ENST00000299766.4:c.883T>C	ENSP00000299766.3:p.Ser295Pro
NM_005912.2:c.883T>C	NP_005903.2:p.Ser295Pro
NM_005912.3:c.883T>C MANE Select	NP_005903.2:p.Ser295Pro