Canonical Allele Identifier: CA397462717
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 2084695
ClinVar RCV Id: RCV002994841
dbSNP Id: rs1216644651
gnomAD v2: 16-89986342-A-T
gnomAD v4: 16-89919934-A-T
MyVariant Identifiers: chr16:g.89986342A>T (hg19) chr16:g.89919934A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919934A>T , CM000678.2:g.89919934A>T GRCh38
NC_000016.9:g.89986342A>T , CM000678.1:g.89986342A>T GRCh37
NC_000016.8:g.88513843A>T NCBI36
NG_012026.1:g.7056A>T
NG_027810.1:g.2926A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.676A>T MANE Select ENSP00000451605.1:p.Lys226Ter
ENST00000639847.1:c.676A>T ENSP00000492011.1:p.Lys226Ter
ENST00000555147.1:c.676A>T ENSP00000451605.1:p.Lys226Ter
ENST00000555427.1:c.676A>T ENSP00000451760.1:p.Lys226Ter
ENST00000556922.1:c.676A>T ENSP00000451560.1:p.Lys226Ter
NM_002386.3:c.676A>T NP_002377.4:p.Lys226Ter
NM_002386.4:c.676A>T MANE Select NP_002377.4:p.Lys226Ter
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Search 100 bp 3'