Canonical Allele Identifier: CA402719101

Gene: MC4R

Linked Data

• dbSNP Id: rs1435358988
• gnomAD v2: 18-58038804-G-A
• gnomAD v4: 18-60371571-G-A
• MyVariant Identifiers: chr18:g.58038804G>A (hg19) ; chr18:g.60371571G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.779C>T MANE Select	ENSP00000299766.3:p.Pro260Leu
ENST00000299766.4:c.779C>T	ENSP00000299766.3:p.Pro260Leu
NM_005912.2:c.779C>T	NP_005903.2:p.Pro260Leu
NM_005912.3:c.779C>T MANE Select	NP_005903.2:p.Pro260Leu