Canonical Allele Identifier: CA233348

Gene: MC1R

Linked Data

• ClinVar Variation Id: 160361
• ClinVar RCV Id: RCV000148031 ; RCV000707635
• dbSNP Id: rs587783376
• ExAC: 16:89986459 G / A
• gnomAD v2: 16-89986459-G-A
• gnomAD v3: 16-89920051-G-A
• gnomAD v4: 16-89920051-G-A
• COSMIC: COSM4738306
• MyVariant Identifiers: chr16:g.89986459G>A (hg19) ; chr16:g.89920051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89920051G>A , CM000678.2:g.89920051G>A	GRCh38
NC_000016.9:g.89986459G>A , CM000678.1:g.89986459G>A	GRCh37
NC_000016.8:g.88513960G>A	NCBI36
NG_012026.1:g.7173G>A
NG_027810.1:g.3043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.793G>A MANE Select	ENSP00000451605.1:p.Val265Ile
ENST00000639847.1:c.793G>A	ENSP00000492011.1:p.Val265Ile
ENST00000555147.1:c.793G>A	ENSP00000451605.1:p.Val265Ile
ENST00000555427.1:c.793G>A	ENSP00000451760.1:p.Val265Ile
ENST00000556922.1:c.793G>A	ENSP00000451560.1:p.Val265Ile
NM_002386.3:c.793G>A	NP_002377.4:p.Val265Ile
NM_002386.4:c.793G>A MANE Select	NP_002377.4:p.Val265Ile