Canonical Allele Identifier: CA8255792
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 861058
ClinVar RCV Id: RCV001067485
dbSNP Id: rs1805009

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.880G>A MANE Select ENSP00000451605.1:p.Asp294Asn
ENST00000639847.1:c.880G>A ENSP00000492011.1:p.Asp294Asn
ENST00000555147.1:c.880G>A ENSP00000451605.1:p.Asp294Asn
ENST00000555427.1:c.880G>A ENSP00000451760.1:p.Asp294Asn
ENST00000556922.1:c.880G>A ENSP00000451560.1:p.Asp294Asn
NM_002386.3:c.880G>A NP_002377.4:p.Asp294Asn
NM_002386.4:c.880G>A MANE Select NP_002377.4:p.Asp294Asn