Canonical Allele Identifier: CA402719103

Gene: MC4R

Linked Data

• ClinVar Variation Id: 976250
• ClinVar RCV Id: RCV001253485 ; RCV001699526
• dbSNP Id: rs1435358988
• gnomAD v4: 18-60371571-G-T
• MyVariant Identifiers: chr18:g.58038804G>T (hg19) ; chr18:g.60371571G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371571G>T , CM000680.2:g.60371571G>T	GRCh38
NC_000018.9:g.58038804G>T , CM000680.1:g.58038804G>T	GRCh37
NC_000018.8:g.56189784G>T	NCBI36
NG_016441.1:g.6198C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.779C>A MANE Select	ENSP00000299766.3:p.Pro260Gln
ENST00000299766.4:c.779C>A	ENSP00000299766.3:p.Pro260Gln
NM_005912.2:c.779C>A	NP_005903.2:p.Pro260Gln
NM_005912.3:c.779C>A MANE Select	NP_005903.2:p.Pro260Gln