Canonical Allele Identifier: CA8255711

Gene: MC1R

Linked Data

• ClinVar Variation Id: 1936343
• ClinVar RCV Id: RCV002657992
• dbSNP Id: rs776046156
• ExAC: 16:89986350 GC / G
• gnomAD v2: 16-89986350-GC-G
• gnomAD v3: 16-89919942-GC-G
• gnomAD v4: 16-89919942-GC-G
• MyVariant Identifiers: chr16:g.89986351del (hg19) ; chr16:g.89919943del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919943del , CM000678.2:g.89919943del	GRCh38
NC_000016.9:g.89986351del , CM000678.1:g.89986351del	GRCh37
NC_000016.8:g.88513852del	NCBI36
NG_012026.1:g.7065del
NG_027810.1:g.2935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.685del MANE Select	ENSP00000451605.1:p.Arg229AlafsTer?
ENST00000639847.1:c.685del	ENSP00000492011.1:p.Arg229AlafsTer?
ENST00000555147.1:c.685del	ENSP00000451605.1:p.Arg229AlafsTer?
ENST00000555427.1:c.685del	ENSP00000451760.1:p.Arg229AlafsTer?
ENST00000556922.1:c.685del	ENSP00000451560.1:p.Arg229AlafsTer?
NM_002386.3:c.685del	NP_002377.4:p.Arg229AlafsTer?
NM_002386.4:c.685del MANE Select	NP_002377.4:p.Arg229AlafsTer?