Canonical Allele Identifier: CA8255627
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 1499782
ClinVar RCV Id: RCV002013034
dbSNP Id: rs35040147
ExAC: 16:89986163 C / T
gnomAD v2: 16-89986163-C-T
gnomAD v3: 16-89919755-C-T
gnomAD v4: 16-89919755-C-T
MyVariant Identifiers: chr16:g.89986163C>T (hg19) chr16:g.89919755C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919755C>T , CM000678.2:g.89919755C>T GRCh38
NC_000016.9:g.89986163C>T , CM000678.1:g.89986163C>T GRCh37
NC_000016.8:g.88513664C>T NCBI36
NG_012026.1:g.6877C>T
NG_027810.1:g.2747C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.497C>T MANE Select ENSP00000451605.1:p.Ala166Val
ENST00000639847.1:c.497C>T ENSP00000492011.1:p.Ala166Val
ENST00000555147.1:c.497C>T ENSP00000451605.1:p.Ala166Val
ENST00000555427.1:c.497C>T ENSP00000451760.1:p.Ala166Val
ENST00000556922.1:c.497C>T ENSP00000451560.1:p.Ala166Val
NM_002386.3:c.497C>T NP_002377.4:p.Ala166Val
NM_002386.4:c.497C>T MANE Select NP_002377.4:p.Ala166Val
Search 100 bp 5'
Search 100 bp 3'