Canonical Allele Identifier: CA397460786
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 2162412
ClinVar RCV Id: RCV003091267
dbSNP Id: rs1165997971
gnomAD v3: 16-89919697-T-C
gnomAD v4: 16-89919697-T-C
MyVariant Identifiers: chr16:g.89986105T>C (hg19) chr16:g.89919697T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919697T>C , CM000678.2:g.89919697T>C GRCh38
NC_000016.9:g.89986105T>C , CM000678.1:g.89986105T>C GRCh37
NC_000016.8:g.88513606T>C NCBI36
NG_012026.1:g.6819T>C
NG_027810.1:g.2689T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.439T>C MANE Select ENSP00000451605.1:p.Phe147Leu
ENST00000639847.1:c.439T>C ENSP00000492011.1:p.Phe147Leu
ENST00000555147.1:c.439T>C ENSP00000451605.1:p.Phe147Leu
ENST00000555427.1:c.439T>C ENSP00000451760.1:p.Phe147Leu
ENST00000556922.1:c.439T>C ENSP00000451560.1:p.Phe147Leu
NM_002386.3:c.439T>C NP_002377.4:p.Phe147Leu
NM_002386.4:c.439T>C MANE Select NP_002377.4:p.Phe147Leu
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Search 100 bp 3'