Canonical Allele Identifier: CA10638697

Gene: MC1R

Linked Data

• ClinVar Variation Id: 321389
• ClinVar RCV Id: RCV000296786 ; RCV001643001
• dbSNP Id: rs3212357
• gnomAD v2: 16-89984604-T-C
• gnomAD v3: 16-89918196-T-C
• gnomAD v4: 16-89918196-T-C
• MyVariant Identifiers: chr16:g.89984604T>C (hg19) ; chr16:g.89918196T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89918196T>C , CM000678.2:g.89918196T>C	GRCh38
NC_000016.9:g.89984604T>C , CM000678.1:g.89984604T>C	GRCh37
NC_000016.8:g.88512105T>C	NCBI36
NG_012026.1:g.5318T>C
NG_027810.1:g.1188T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639847.1:c.-409+149T>C	ENSP00000492011.1:n.-409+149T>C
ENST00000555147.1:c.-1063T>C	ENSP00000451605.1:n.-1063T>C
ENST00000555427.1:c.-409+149T>C	ENSP00000451760.1:n.-409+149T>C
NM_002386.3:c.-1063T>C	NP_002377.4:n.-1063T>C