Canonical Allele Identifier: CA8255603
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 834818
ClinVar RCV Id: RCV001035581 RCV003736962
dbSNP Id: rs201975178
ExAC: 16:89986133 T / C
gnomAD v2: 16-89986133-T-C
gnomAD v3: 16-89919725-T-C
gnomAD v4: 16-89919725-T-C
MyVariant Identifiers: chr16:g.89986133T>C (hg19) chr16:g.89919725T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919725T>C , CM000678.2:g.89919725T>C GRCh38
NC_000016.9:g.89986133T>C , CM000678.1:g.89986133T>C GRCh37
NC_000016.8:g.88513634T>C NCBI36
NG_012026.1:g.6847T>C
NG_027810.1:g.2717T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.467T>C MANE Select ENSP00000451605.1:p.Val156Ala
ENST00000639847.1:c.467T>C ENSP00000492011.1:p.Val156Ala
ENST00000555147.1:c.467T>C ENSP00000451605.1:p.Val156Ala
ENST00000555427.1:c.467T>C ENSP00000451760.1:p.Val156Ala
ENST00000556922.1:c.467T>C ENSP00000451560.1:p.Val156Ala
NM_002386.3:c.467T>C NP_002377.4:p.Val156Ala
NM_002386.4:c.467T>C MANE Select NP_002377.4:p.Val156Ala
Search 100 bp 5'
Search 100 bp 3'