Canonical Allele Identifier: CA10648410

Gene: MC1R

Linked Data

• ClinVar Variation Id: 321379
• ClinVar RCV Id: RCV000354264 ; RCV001709594
• dbSNP Id: rs3212354
• gnomAD v2: 16-89984370-T-C
• gnomAD v3: 16-89917962-T-C
• gnomAD v4: 16-89917962-T-C
• MyVariant Identifiers: chr16:g.89984370T>C (hg19) ; chr16:g.89917962T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89917962T>C , CM000678.2:g.89917962T>C	GRCh38
NC_000016.9:g.89984370T>C , CM000678.1:g.89984370T>C	GRCh37
NC_000016.8:g.88511871T>C	NCBI36
NG_012026.1:g.5084T>C
NG_027810.1:g.954T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639847.1:c.-494T>C	ENSP00000492011.1:n.-494T>C
ENST00000555147.1:c.-1297T>C	ENSP00000451605.1:n.-1297T>C
ENST00000555427.1:c.-494T>C	ENSP00000451760.1:n.-494T>C
NM_002386.3:c.-1297T>C	NP_002377.4:n.-1297T>C