Canonical Allele Identifier: CA8255720
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 321438
ClinVar RCV Id: RCV000539784 RCV003736716
dbSNP Id: rs34490506
ExAC: 16:89986383 C / T
gnomAD v2: 16-89986383-C-T
gnomAD v3: 16-89919975-C-T
gnomAD v4: 16-89919975-C-T
MyVariant Identifiers: chr16:g.89986383C>T (hg19) chr16:g.89919975C>T (hg38)
PubMed: PMID:18803811
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919975C>T , CM000678.2:g.89919975C>T GRCh38
NC_000016.9:g.89986383C>T , CM000678.1:g.89986383C>T GRCh37
NC_000016.8:g.88513884C>T NCBI36
NG_012026.1:g.7097C>T
NG_027810.1:g.2967C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.717C>T MANE Select ENSP00000451605.1:p.Gly239=
ENST00000639847.1:c.717C>T ENSP00000492011.1:p.Gly239=
ENST00000555147.1:c.717C>T ENSP00000451605.1:p.Gly239=
ENST00000555427.1:c.717C>T ENSP00000451760.1:p.Gly239=
ENST00000556922.1:c.717C>T ENSP00000451560.1:p.Gly239=
NM_002386.3:c.717C>T NP_002377.4:p.Gly239=
NM_002386.4:c.717C>T MANE Select NP_002377.4:p.Gly239=
Search 100 bp 5'
Search 100 bp 3'