Canonical Allele Identifier: CA8255589
Gene: MC1R HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 239153
dbSNP Id: rs11547464

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919683G>A , CM000678.2:g.89919683G>A GRCh38
NC_000016.9:g.89986091G>A , CM000678.1:g.89986091G>A GRCh37
NC_000016.8:g.88513592G>A NCBI36
NG_012026.1:g.6805G>A
NG_027810.1:g.2675G>A

Transcript Alleles

HGVS Amino-acid change
NM_002386.3:c.425G>A VV NP_002377.4:p.Arg142His
ENST00000555147.1:c.425G>A ENSP00000451605.1:p.Arg142His
ENST00000555427.1:c.425G>A ENSP00000451760.1:p.Arg142His
ENST00000556922.1:c.425G>A ENSP00000451560.1:p.Arg142His