Canonical Allele Identifier: CA8255728
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 2698184
ClinVar RCV Id: RCV003515306
dbSNP Id: rs769056179
ExAC: 16:89986396 A / C
gnomAD v2: 16-89986396-A-C
gnomAD v4: 16-89919988-A-C
MyVariant Identifiers: chr16:g.89986396A>C (hg19) chr16:g.89986396_89986408delinsCCCATCCTGCTGG (hg19) chr16:g.89919988A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919988A>C , CM000678.2:g.89919988A>C GRCh38
NC_000016.9:g.89986396A>C , CM000678.1:g.89986396A>C GRCh37
NC_000016.8:g.88513897A>C NCBI36
NG_012026.1:g.7110A>C
NG_027810.1:g.2980A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.730A>C MANE Select ENSP00000451605.1:p.Thr244Pro
ENST00000639847.1:c.730A>C ENSP00000492011.1:p.Thr244Pro
ENST00000555147.1:c.730A>C ENSP00000451605.1:p.Thr244Pro
ENST00000555427.1:c.730A>C ENSP00000451760.1:p.Thr244Pro
ENST00000556922.1:c.730A>C ENSP00000451560.1:p.Thr244Pro
NM_002386.3:c.730A>C NP_002377.4:p.Thr244Pro
NM_002386.4:c.730A>C MANE Select NP_002377.4:p.Thr244Pro
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