Canonical Allele Identifier: CA8255542
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 449207
ClinVar RCV Id: RCV000523194 RCV000647345 RCV000662299 RCV000764095 RCV000851260
dbSNP Id: rs34540312
ExAC: 16:89985931 G / C
gnomAD v2: 16-89985931-G-C
gnomAD v3: 16-89919523-G-C
gnomAD v4: 16-89919523-G-C
MyVariant Identifiers: chr16:g.89985931G>C (hg19) chr16:g.89919523G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919523G>C , CM000678.2:g.89919523G>C GRCh38
NC_000016.9:g.89985931G>C , CM000678.1:g.89985931G>C GRCh37
NC_000016.8:g.88513432G>C NCBI36
NG_012026.1:g.6645G>C
NG_027810.1:g.2515G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.265G>C MANE Select ENSP00000451605.1:p.Gly89Arg
ENST00000639847.1:c.265G>C ENSP00000492011.1:p.Gly89Arg
ENST00000555147.1:c.265G>C ENSP00000451605.1:p.Gly89Arg
ENST00000555427.1:c.265G>C ENSP00000451760.1:p.Gly89Arg
ENST00000556922.1:c.265G>C ENSP00000451560.1:p.Gly89Arg
NM_002386.3:c.265G>C NP_002377.4:p.Gly89Arg
NM_002386.4:c.265G>C MANE Select NP_002377.4:p.Gly89Arg
Search 100 bp 5'
Search 100 bp 3'