Canonical Allele Identifier: CA658658520
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 470709
ClinVar RCV Id: RCV000531473
dbSNP Id: rs1555623867
gnomAD v4: 16-89919955-C-CA
MyVariant Identifiers: chr16:g.89986364dup (hg19) chr16:g.89919956dup (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919956dup , CM000678.2:g.89919956dup GRCh38
NC_000016.9:g.89986364dup , CM000678.1:g.89986364dup GRCh37
NC_000016.8:g.88513865dup NCBI36
NG_012026.1:g.7078dup
NG_027810.1:g.2948dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.698dup MANE Select ENSP00000451605.1:p.Phe235LeufsTer4
ENST00000639847.1:c.698dup ENSP00000492011.1:p.Phe235LeufsTer4
ENST00000555147.1:c.698dup ENSP00000451605.1:p.Phe235LeufsTer4
ENST00000555427.1:c.698dup ENSP00000451760.1:p.Phe235LeufsTer4
ENST00000556922.1:c.698dup ENSP00000451560.1:p.Phe235LeufsTer4
NM_002386.3:c.698dup NP_002377.4:p.Phe235LeufsTer4
NM_002386.4:c.698dup MANE Select NP_002377.4:p.Phe235LeufsTer4
Search 100 bp 5'
Search 100 bp 3'