Canonical Allele Identifier: CA123861

Gene: MC1R

Linked Data

• ClinVar Variation Id: 14307
• ClinVar RCV Id: RCV001195217 ; RCV003891437
• dbSNP Id: rs1805009
• ExAC: 16:89986546 G / C
• gnomAD v2: 16-89986546-G-C
• gnomAD v3: 16-89920138-G-C
• gnomAD v4: 16-89920138-G-C
• MyVariant Identifiers: chr16:g.89986546G>C (hg19) ; chr16:g.89920138G>C (hg38)
• PubMed: PMID:7581459 ; PMID:11179997 ; PMID:17616515 ; PMID:18366057

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89920138G>C , CM000678.2:g.89920138G>C	GRCh38
NC_000016.9:g.89986546G>C , CM000678.1:g.89986546G>C	GRCh37
NC_000016.8:g.88514047G>C	NCBI36
NG_012026.1:g.7260G>C
NG_027810.1:g.3130G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000555147.2:c.880G>C MANE Select	ENSP00000451605.1:p.Asp294His
ENST00000639847.1:c.880G>C	ENSP00000492011.1:p.Asp294His
ENST00000555147.1:c.880G>C	ENSP00000451605.1:p.Asp294His
ENST00000555427.1:c.880G>C	ENSP00000451760.1:p.Asp294His
ENST00000556922.1:c.880G>C	ENSP00000451560.1:p.Asp294His
NM_002386.3:c.880G>C	NP_002377.4:p.Asp294His
NM_002386.4:c.880G>C MANE Select	NP_002377.4:p.Asp294His