Canonical Allele Identifier: CA8255699
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 1391925
ClinVar RCV Id: RCV001882056
dbSNP Id: rs371906898
ExAC: 16:89986328 T / C
gnomAD v2: 16-89986328-T-C
gnomAD v3: 16-89919920-T-C
gnomAD v4: 16-89919920-T-C
MyVariant Identifiers: chr16:g.89986328T>C (hg19) chr16:g.89986328_89986350delinsCCGCCCGGCTCCACAAGAGGCAG (hg19) chr16:g.89919920T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919920T>C , CM000678.2:g.89919920T>C GRCh38
NC_000016.9:g.89986328T>C , CM000678.1:g.89986328T>C GRCh37
NC_000016.8:g.88513829T>C NCBI36
NG_012026.1:g.7042T>C
NG_027810.1:g.2912T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.662T>C MANE Select ENSP00000451605.1:p.Ile221Thr
ENST00000639847.1:c.662T>C ENSP00000492011.1:p.Ile221Thr
ENST00000555147.1:c.662T>C ENSP00000451605.1:p.Ile221Thr
ENST00000555427.1:c.662T>C ENSP00000451760.1:p.Ile221Thr
ENST00000556922.1:c.662T>C ENSP00000451560.1:p.Ile221Thr
NM_002386.3:c.662T>C NP_002377.4:p.Ile221Thr
NM_002386.4:c.662T>C MANE Select NP_002377.4:p.Ile221Thr
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Search 100 bp 3'