Canonical Allele Identifier: CA301529994

Gene: MC4R

Linked Data

• dbSNP Id: rs948645304
• gnomAD v3: 18-60371286-T-A
• gnomAD v4: 18-60371286-T-A
• MyVariant Identifiers: chr18:g.58038519T>A (hg19) ; chr18:g.60371286T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371286T>A , CM000680.2:g.60371286T>A	GRCh38
NC_000018.9:g.58038519T>A , CM000680.1:g.58038519T>A	GRCh37
NC_000018.8:g.56189499T>A	NCBI36
NG_016441.1:g.6483A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.*65A>T MANE Select	ENSP00000299766.3:n.*65A>T
ENST00000299766.4:c.*65A>T	ENSP00000299766.3:n.*65A>T
NM_005912.3:c.*65A>T MANE Select	NP_005903.2:n.*65A>T