Canonical Allele Identifier: CA8255480
Gene: MC1R HGNC NCBI
gnomAD v2:
16:89985750 C / CA
gnomAD v3:
16:89919342 C / CA
gnomAD v4:
chr16-89919342-C-CA
Joint Max Group AF 0.00425947 (NFE)
Genomes Max Group AF 0.00346808 (NFE)
Exomes Max Group AF 0.00428723 (NFE)
ClinVar RCV:
RCV000230113
RCV000996417
ClinVar Variation:
239162
dbSNP:
796296176
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919344dup , CM000678.2:g.89919344dup GRCh38
NC_000016.9:g.89985752dup , CM000678.1:g.89985752dup GRCh37
NC_000016.8:g.88513253dup NCBI36
NG_012026.1:g.6466dup
NG_027810.1:g.2336dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.86dup MANE Select ENSP00000451605.1:p.Asn29LysfsTer14
ENST00000639847.1:c.86dup ENSP00000492011.1:p.Asn29LysfsTer14
ENST00000555147.1:c.86dup ENSP00000451605.1:p.Asn29LysfsTer14
ENST00000555427.1:c.86dup ENSP00000451760.1:p.Asn29LysfsTer14
ENST00000556922.1:c.86dup ENSP00000451560.1:p.Asn29LysfsTer14
NM_002386.3:c.86dup NP_002377.4:p.Asn29LysfsTer14
NM_002386.4:c.86dup MANE Select NP_002377.4:p.Asn29LysfsTer14
Search 100 bp 5'
Search 100 bp 3'