Canonical Allele Identifier: CA8255578
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 1169773
ClinVar RCV Id: RCV001521515
dbSNP Id: rs564161331
ExAC: 16:89986067 T / C
gnomAD v2: 16-89986067-T-C
gnomAD v3: 16-89919659-T-C
gnomAD v4: 16-89919659-T-C
MyVariant Identifiers: chr16:g.89986067T>C (hg19) chr16:g.89919659T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919659T>C , CM000678.2:g.89919659T>C GRCh38
NC_000016.9:g.89986067T>C , CM000678.1:g.89986067T>C GRCh37
NC_000016.8:g.88513568T>C NCBI36
NG_012026.1:g.6781T>C
NG_027810.1:g.2651T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.401T>C MANE Select ENSP00000451605.1:p.Phe134Ser
ENST00000639847.1:c.401T>C ENSP00000492011.1:p.Phe134Ser
ENST00000555147.1:c.401T>C ENSP00000451605.1:p.Phe134Ser
ENST00000555427.1:c.401T>C ENSP00000451760.1:p.Phe134Ser
ENST00000556922.1:c.401T>C ENSP00000451560.1:p.Phe134Ser
NM_002386.3:c.401T>C NP_002377.4:p.Phe134Ser
NM_002386.4:c.401T>C MANE Select NP_002377.4:p.Phe134Ser
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