Canonical Allele Identifier: CA397462638
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 2246340
ClinVar RCV Id: RCV004102509
dbSNP Id: rs1365988597
gnomAD v3: 16-89919919-A-G
gnomAD v4: 16-89919919-A-G
MyVariant Identifiers: chr16:g.89986327A>G (hg19) chr16:g.89919919A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919919A>G , CM000678.2:g.89919919A>G GRCh38
NC_000016.9:g.89986327A>G , CM000678.1:g.89986327A>G GRCh37
NC_000016.8:g.88513828A>G NCBI36
NG_012026.1:g.7041A>G
NG_027810.1:g.2911A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.661A>G MANE Select ENSP00000451605.1:p.Ile221Val
ENST00000639847.1:c.661A>G ENSP00000492011.1:p.Ile221Val
ENST00000555147.1:c.661A>G ENSP00000451605.1:p.Ile221Val
ENST00000555427.1:c.661A>G ENSP00000451760.1:p.Ile221Val
ENST00000556922.1:c.661A>G ENSP00000451560.1:p.Ile221Val
NM_002386.3:c.661A>G NP_002377.4:p.Ile221Val
NM_002386.4:c.661A>G MANE Select NP_002377.4:p.Ile221Val
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