Canonical Allele Identifier: CA8255696

Gene: MC1R

Linked Data

• ClinVar Variation Id: 321436
• ClinVar RCV Id: RCV000384364
• dbSNP Id: rs756060136
• ExAC: 16:89986317 C / T
• gnomAD v2: 16-89986317-C-T
• gnomAD v3: 16-89919909-C-T
• gnomAD v4: 16-89919909-C-T
• MyVariant Identifiers: chr16:g.89986317C>T (hg19) ; chr16:g.89919909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919909C>T , CM000678.2:g.89919909C>T	GRCh38
NC_000016.9:g.89986317C>T , CM000678.1:g.89986317C>T	GRCh37
NC_000016.8:g.88513818C>T	NCBI36
NG_012026.1:g.7031C>T
NG_027810.1:g.2901C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.651C>T MANE Select	ENSP00000451605.1:p.His217=
ENST00000639847.1:c.651C>T	ENSP00000492011.1:p.His217=
ENST00000555147.1:c.651C>T	ENSP00000451605.1:p.His217=
ENST00000555427.1:c.651C>T	ENSP00000451760.1:p.His217=
ENST00000556922.1:c.651C>T	ENSP00000451560.1:p.His217=
NM_002386.3:c.651C>T	NP_002377.4:p.His217=
NM_002386.4:c.651C>T MANE Select	NP_002377.4:p.His217=