Canonical Allele Identifier: CA402719705

Gene: MC4R

Linked Data

• ClinVar Variation Id: 499550
• ClinVar RCV Id: RCV000596154 ; RCV001027999
• dbSNP Id: rs1555691402
• gnomAD v4: 18-60371865-G-A
• MyVariant Identifiers: chr18:g.58039098G>A (hg19) ; chr18:g.60371865G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371865G>A , CM000680.2:g.60371865G>A	GRCh38
NC_000018.9:g.58039098G>A , CM000680.1:g.58039098G>A	GRCh37
NC_000018.8:g.56190078G>A	NCBI36
NG_016441.1:g.5904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.485C>T MANE Select	ENSP00000299766.3:p.Thr162Ile
ENST00000299766.4:c.485C>T	ENSP00000299766.3:p.Thr162Ile
NM_005912.2:c.485C>T	NP_005903.2:p.Thr162Ile
NM_005912.3:c.485C>T MANE Select	NP_005903.2:p.Thr162Ile