Canonical Allele Identifier: CA8255707
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 1011196
ClinVar RCV Id: RCV001308959
dbSNP Id: rs769200898
ExAC: 16:89986334 G / A
gnomAD v2: 16-89986334-G-A
gnomAD v3: 16-89919926-G-A
gnomAD v4: 16-89919926-G-A
MyVariant Identifiers: chr16:g.89986334G>A (hg19) chr16:g.89919926G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919926G>A , CM000678.2:g.89919926G>A GRCh38
NC_000016.9:g.89986334G>A , CM000678.1:g.89986334G>A GRCh37
NC_000016.8:g.88513835G>A NCBI36
NG_012026.1:g.7048G>A
NG_027810.1:g.2918G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.668G>A MANE Select ENSP00000451605.1:p.Arg223Gln
ENST00000639847.1:c.668G>A ENSP00000492011.1:p.Arg223Gln
ENST00000555147.1:c.668G>A ENSP00000451605.1:p.Arg223Gln
ENST00000555427.1:c.668G>A ENSP00000451760.1:p.Arg223Gln
ENST00000556922.1:c.668G>A ENSP00000451560.1:p.Arg223Gln
NM_002386.3:c.668G>A NP_002377.4:p.Arg223Gln
NM_002386.4:c.668G>A MANE Select NP_002377.4:p.Arg223Gln
Search 100 bp 5'
Search 100 bp 3'