Canonical Allele Identifier: CA286607547
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 701198
ClinVar RCV Id: RCV000869663
dbSNP Id: rs566784469
gnomAD v2: 16-89986242-C-G
gnomAD v3: 16-89919834-C-G
gnomAD v4: 16-89919834-C-G
MyVariant Identifiers: chr16:g.89986242C>G (hg19) chr16:g.89919834C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919834C>G , CM000678.2:g.89919834C>G GRCh38
NC_000016.9:g.89986242C>G , CM000678.1:g.89986242C>G GRCh37
NC_000016.8:g.88513743C>G NCBI36
NG_012026.1:g.6956C>G
NG_027810.1:g.2826C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.576C>G MANE Select ENSP00000451605.1:p.Leu192=
ENST00000639847.1:c.576C>G ENSP00000492011.1:p.Leu192=
ENST00000555147.1:c.576C>G ENSP00000451605.1:p.Leu192=
ENST00000555427.1:c.576C>G ENSP00000451760.1:p.Leu192=
ENST00000556922.1:c.576C>G ENSP00000451560.1:p.Leu192=
NM_002386.3:c.576C>G NP_002377.4:p.Leu192=
NM_002386.4:c.576C>G MANE Select NP_002377.4:p.Leu192=
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