Canonical Allele Identifier: CA8980847

Gene: MC4R

Linked Data

• ClinVar Variation Id: 549551
• ClinVar RCV Id: RCV000664153 ; RCV000709739 ; RCV001756121 ; RCV003928155
• dbSNP Id: rs772393451
• ExAC: 18:58038834 A / T
• gnomAD v2: 18-58038834-A-T
• gnomAD v3: 18-60371601-A-T
• gnomAD v4: 18-60371601-A-T
• MyVariant Identifiers: chr18:g.58038834A>T (hg19) ; chr18:g.60371601A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371601A>T , CM000680.2:g.60371601A>T	GRCh38
NC_000018.9:g.58038834A>T , CM000680.1:g.58038834A>T	GRCh37
NC_000018.8:g.56189814A>T	NCBI36
NG_016441.1:g.6168T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.749T>A MANE Select	ENSP00000299766.3:p.Leu250Gln
ENST00000299766.4:c.749T>A	ENSP00000299766.3:p.Leu250Gln
NM_005912.2:c.749T>A	NP_005903.2:p.Leu250Gln
NM_005912.3:c.749T>A MANE Select	NP_005903.2:p.Leu250Gln