Canonical Allele Identifier: CA8255708
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 568821
ClinVar RCV Id: RCV000689293
dbSNP Id: rs772601310
ExAC: 16:89986336 C / T
gnomAD v2: 16-89986336-C-T
gnomAD v3: 16-89919928-C-T
gnomAD v4: 16-89919928-C-T
MyVariant Identifiers: chr16:g.89986336C>T (hg19) chr16:g.89919928C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919928C>T , CM000678.2:g.89919928C>T GRCh38
NC_000016.9:g.89986336C>T , CM000678.1:g.89986336C>T GRCh37
NC_000016.8:g.88513837C>T NCBI36
NG_012026.1:g.7050C>T
NG_027810.1:g.2920C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.670C>T MANE Select ENSP00000451605.1:p.Leu224Phe
ENST00000639847.1:c.670C>T ENSP00000492011.1:p.Leu224Phe
ENST00000555147.1:c.670C>T ENSP00000451605.1:p.Leu224Phe
ENST00000555427.1:c.670C>T ENSP00000451760.1:p.Leu224Phe
ENST00000556922.1:c.670C>T ENSP00000451560.1:p.Leu224Phe
NM_002386.3:c.670C>T NP_002377.4:p.Leu224Phe
NM_002386.4:c.670C>T MANE Select NP_002377.4:p.Leu224Phe
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