Canonical Allele Identifier: CA8255714
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 941371
ClinVar RCV Id: RCV001211146
dbSNP Id: rs368714912
ExAC: 16:89986355 C / T
gnomAD v2: 16-89986355-C-T
gnomAD v3: 16-89919947-C-T
gnomAD v4: 16-89919947-C-T
MyVariant Identifiers: chr16:g.89986355C>T (hg19) chr16:g.89919947C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919947C>T , CM000678.2:g.89919947C>T GRCh38
NC_000016.9:g.89986355C>T , CM000678.1:g.89986355C>T GRCh37
NC_000016.8:g.88513856C>T NCBI36
NG_012026.1:g.7069C>T
NG_027810.1:g.2939C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.689C>T MANE Select ENSP00000451605.1:p.Pro230Leu
ENST00000639847.1:c.689C>T ENSP00000492011.1:p.Pro230Leu
ENST00000555147.1:c.689C>T ENSP00000451605.1:p.Pro230Leu
ENST00000555427.1:c.689C>T ENSP00000451760.1:p.Pro230Leu
ENST00000556922.1:c.689C>T ENSP00000451560.1:p.Pro230Leu
NM_002386.3:c.689C>T NP_002377.4:p.Pro230Leu
NM_002386.4:c.689C>T MANE Select NP_002377.4:p.Pro230Leu
Search 100 bp 5'
Search 100 bp 3'