Canonical Allele Identifier: CA397462546

Gene: MC1R

Linked Data

• dbSNP Id: rs1372842712
• gnomAD v2: 16-89986312-C-G
• gnomAD v4: 16-89919904-C-G
• MyVariant Identifiers: chr16:g.89986312C>G (hg19) ; chr16:g.89919904C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919904C>G , CM000678.2:g.89919904C>G	GRCh38
NC_000016.9:g.89986312C>G , CM000678.1:g.89986312C>G	GRCh37
NC_000016.8:g.88513813C>G	NCBI36
NG_012026.1:g.7026C>G
NG_027810.1:g.2896C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.646C>G MANE Select	ENSP00000451605.1:p.Gln216Glu
ENST00000639847.1:c.646C>G	ENSP00000492011.1:p.Gln216Glu
ENST00000555147.1:c.646C>G	ENSP00000451605.1:p.Gln216Glu
ENST00000555427.1:c.646C>G	ENSP00000451760.1:p.Gln216Glu
ENST00000556922.1:c.646C>G	ENSP00000451560.1:p.Gln216Glu
NM_002386.3:c.646C>G	NP_002377.4:p.Gln216Glu
NM_002386.4:c.646C>G MANE Select	NP_002377.4:p.Gln216Glu