Canonical Allele Identifier: CA8255638

Gene: MC1R

Linked Data

• ClinVar Variation Id: 548660
• ClinVar RCV Id: RCV000662302 ; RCV000851263 ; RCV001855403
• dbSNP Id: rs747777879
• ExAC: 16:89986182 TGTC / T
• gnomAD v2: 16-89986182-TGTC-T
• gnomAD v3: 16-89919774-TGTC-T
• gnomAD v4: 16-89919774-TGTC-T
• MyVariant Identifiers: chr16:g.89986186_89986188del (hg19) ; chr16:g.89986183_89986185del (hg19) ; chr16:g.89919778_89919780del (hg38) ; chr16:g.89919775_89919777del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919778_89919780del , CM000678.2:g.89919778_89919780del	GRCh38
NC_000016.9:g.89986186_89986188del , CM000678.1:g.89986186_89986188del	GRCh37
NC_000016.8:g.88513687_88513689del	NCBI36
NG_012026.1:g.6900_6902del
NG_027810.1:g.2770_2772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.520_522del MANE Select	ENSP00000451605.1:p.Val174del
ENST00000639847.1:c.520_522del	ENSP00000492011.1:p.Val174del
ENST00000555147.1:c.520_522del	ENSP00000451605.1:p.Val174del
ENST00000555427.1:c.520_522del	ENSP00000451760.1:p.Val174del
ENST00000556922.1:c.520_522del	ENSP00000451560.1:p.Val174del
NM_002386.3:c.520_522del	NP_002377.4:p.Val174del
NM_002386.4:c.520_522del MANE Select	NP_002377.4:p.Val174del