Canonical Allele Identifier: CA8980885

Gene: MC4R

Linked Data

• ClinVar Variation Id: 259890
• ClinVar RCV Id: RCV000241630 ; RCV000385624 ; RCV000712269
• dbSNP Id: rs61741819
• ExAC: 18:58038989 G / A
• gnomAD v2: 18-58038989-G-A
• gnomAD v3: 18-60371756-G-A
• gnomAD v4: 18-60371756-G-A
• MyVariant Identifiers: chr18:g.58038989G>A (hg19) ; chr18:g.60371756G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371756G>A , CM000680.2:g.60371756G>A	GRCh38
NC_000018.9:g.58038989G>A , CM000680.1:g.58038989G>A	GRCh37
NC_000018.8:g.56189969G>A	NCBI36
NG_016441.1:g.6013C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.594C>T MANE Select	ENSP00000299766.3:p.Ile198=
ENST00000299766.4:c.594C>T	ENSP00000299766.3:p.Ile198=
NM_005912.2:c.594C>T	NP_005903.2:p.Ile198=
NM_005912.3:c.594C>T MANE Select	NP_005903.2:p.Ile198=