Canonical Allele Identifier: CA8255589

Gene: MC1R

Linked Data

• ClinVar Variation Id: 239153
• ClinVar RCV Id: RCV000227554 ; RCV001172103
• dbSNP Id: rs11547464
• ExAC: 16:89986091 G / A
• gnomAD v2: 16-89986091-G-A
• gnomAD v3: 16-89919683-G-A
• gnomAD v4: 16-89919683-G-A
• MyVariant Identifiers: chr16:g.89986091G>A (hg19) ; chr16:g.89919683G>A (hg38)
• PubMed: PMID:10403794 ; PMID:18366057 ; PMID:19585506 ; PMID:19924138 ; PMID:21128237 ; PMID:22095742

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919683G>A , CM000678.2:g.89919683G>A	GRCh38
NC_000016.9:g.89986091G>A , CM000678.1:g.89986091G>A	GRCh37
NC_000016.8:g.88513592G>A	NCBI36
NG_012026.1:g.6805G>A
NG_027810.1:g.2675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.425G>A MANE Select	ENSP00000451605.1:p.Arg142His
ENST00000639847.1:c.425G>A	ENSP00000492011.1:p.Arg142His
ENST00000555147.1:c.425G>A	ENSP00000451605.1:p.Arg142His
ENST00000555427.1:c.425G>A	ENSP00000451760.1:p.Arg142His
ENST00000556922.1:c.425G>A	ENSP00000451560.1:p.Arg142His
NM_002386.3:c.425G>A	NP_002377.4:p.Arg142His
NM_002386.4:c.425G>A MANE Select	NP_002377.4:p.Arg142His