Canonical Allele Identifier: CA8255590
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 2731636
ClinVar RCV Id: RCV003516208
dbSNP Id: rs750618617

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919684C>G , CM000678.2:g.89919684C>G GRCh38
NC_000016.9:g.89986092C>G , CM000678.1:g.89986092C>G GRCh37
NC_000016.8:g.88513593C>G NCBI36
NG_012026.1:g.6806C>G
NG_027810.1:g.2676C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.426C>G MANE Select ENSP00000451605.1:p.Arg142=
ENST00000639847.1:c.426C>G ENSP00000492011.1:p.Arg142=
ENST00000555147.1:c.426C>G ENSP00000451605.1:p.Arg142=
ENST00000555427.1:c.426C>G ENSP00000451760.1:p.Arg142=
ENST00000556922.1:c.426C>G ENSP00000451560.1:p.Arg142=
NM_002386.3:c.426C>G NP_002377.4:p.Arg142=
NM_002386.4:c.426C>G MANE Select NP_002377.4:p.Arg142=