Canonical Allele Identifier: CA123863
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 14308
ClinVar RCV Id: RCV000015378 RCV000015379 RCV000247471 RCV000278283 RCV001707509
dbSNP Id: rs2228479
ExAC: 16:89985940 G / A
gnomAD v2: 16-89985940-G-A
gnomAD v3: 16-89919532-G-A
gnomAD v4: 16-89919532-G-A
MyVariant Identifiers: chr16:g.89985940G>A (hg19) chr16:g.89919532G>A (hg38)
PubMed: PMID:7581459 PMID:8944016 PMID:8990005 PMID:11487574 PMID:16463023
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919532G>A , CM000678.2:g.89919532G>A GRCh38
NC_000016.9:g.89985940G>A , CM000678.1:g.89985940G>A GRCh37
NC_000016.8:g.88513441G>A NCBI36
NG_012026.1:g.6654G>A
NG_027810.1:g.2524G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.274G>A MANE Select ENSP00000451605.1:p.Val92Met
ENST00000639847.1:c.274G>A ENSP00000492011.1:p.Val92Met
ENST00000555147.1:c.274G>A ENSP00000451605.1:p.Val92Met
ENST00000555427.1:c.274G>A ENSP00000451760.1:p.Val92Met
ENST00000556922.1:c.274G>A ENSP00000451560.1:p.Val92Met
NM_002386.3:c.274G>A NP_002377.4:p.Val92Met
NM_002386.4:c.274G>A MANE Select NP_002377.4:p.Val92Met
Search 100 bp 5'
Search 100 bp 3'