Canonical Allele Identifier: CA286607444
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 2918297
ClinVar RCV Id: RCV003630040
dbSNP Id: rs200759505
gnomAD v2: 16-89985897-C-G
gnomAD v3: 16-89919489-C-G
gnomAD v4: 16-89919489-C-G
MyVariant Identifiers: chr16:g.89985897C>G (hg19) chr16:g.89919489C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919489C>G , CM000678.2:g.89919489C>G GRCh38
NC_000016.9:g.89985897C>G , CM000678.1:g.89985897C>G GRCh37
NC_000016.8:g.88513398C>G NCBI36
NG_012026.1:g.6611C>G
NG_027810.1:g.2481C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.231C>G MANE Select ENSP00000451605.1:p.Ile77Met
ENST00000639847.1:c.231C>G ENSP00000492011.1:p.Ile77Met
ENST00000555147.1:c.231C>G ENSP00000451605.1:p.Ile77Met
ENST00000555427.1:c.231C>G ENSP00000451760.1:p.Ile77Met
ENST00000556922.1:c.231C>G ENSP00000451560.1:p.Ile77Met
NM_002386.3:c.231C>G NP_002377.4:p.Ile77Met
NM_002386.4:c.231C>G MANE Select NP_002377.4:p.Ile77Met
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