Canonical Allele Identifier: CA397462388

Gene: MC1R

Linked Data

• ClinVar Variation Id: 1387385
• ClinVar RCV Id: RCV001906028
• dbSNP Id: rs775933691
• MyVariant Identifiers: chr16:g.89986288G>T (hg19) ; chr16:g.89919880G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919880G>T , CM000678.2:g.89919880G>T	GRCh38
NC_000016.9:g.89986288G>T , CM000678.1:g.89986288G>T	GRCh37
NC_000016.8:g.88513789G>T	NCBI36
NG_012026.1:g.7002G>T
NG_027810.1:g.2872G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.622G>T MANE Select	ENSP00000451605.1:p.Val208Phe
ENST00000639847.1:c.622G>T	ENSP00000492011.1:p.Val208Phe
ENST00000555147.1:c.622G>T	ENSP00000451605.1:p.Val208Phe
ENST00000555427.1:c.622G>T	ENSP00000451760.1:p.Val208Phe
ENST00000556922.1:c.622G>T	ENSP00000451560.1:p.Val208Phe
NM_002386.3:c.622G>T	NP_002377.4:p.Val208Phe
NM_002386.4:c.622G>T MANE Select	NP_002377.4:p.Val208Phe