Canonical Allele Identifier: CA8255484
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 470700
ClinVar RCV Id: RCV001452826
dbSNP Id: rs758135673
ExAC: 16:89985768 G / C
gnomAD v2: 16-89985768-G-C
gnomAD v3: 16-89919360-G-C
gnomAD v4: 16-89919360-G-C
MyVariant Identifiers: chr16:g.89985768G>C (hg19) chr16:g.89919360G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919360G>C , CM000678.2:g.89919360G>C GRCh38
NC_000016.9:g.89985768G>C , CM000678.1:g.89985768G>C GRCh37
NC_000016.8:g.88513269G>C NCBI36
NG_012026.1:g.6482G>C
NG_027810.1:g.2352G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.102G>C MANE Select ENSP00000451605.1:p.Arg34=
ENST00000639847.1:c.102G>C ENSP00000492011.1:p.Arg34=
ENST00000555147.1:c.102G>C ENSP00000451605.1:p.Arg34=
ENST00000555427.1:c.102G>C ENSP00000451760.1:p.Arg34=
ENST00000556922.1:c.102G>C ENSP00000451560.1:p.Arg34=
NM_002386.3:c.102G>C NP_002377.4:p.Arg34=
NM_002386.4:c.102G>C MANE Select NP_002377.4:p.Arg34=
Search 100 bp 5'
Search 100 bp 3'