Canonical Allele Identifier: CA497380291
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 2918843
ClinVar RCV Id: RCV003630051
dbSNP Id: rs1340863788
gnomAD v4: 16-89919595-C-T
MyVariant Identifiers: chr16:g.89986003C>T (hg19) chr16:g.89919595C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919595C>T , CM000678.2:g.89919595C>T GRCh38
NC_000016.9:g.89986003C>T , CM000678.1:g.89986003C>T GRCh37
NC_000016.8:g.88513504C>T NCBI36
NG_012026.1:g.6717C>T
NG_027810.1:g.2587C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.337C>T MANE Select ENSP00000451605.1:p.Leu113=
ENST00000639847.1:c.337C>T ENSP00000492011.1:p.Leu113=
ENST00000555147.1:c.337C>T ENSP00000451605.1:p.Leu113=
ENST00000555427.1:c.337C>T ENSP00000451760.1:p.Leu113=
ENST00000556922.1:c.337C>T ENSP00000451560.1:p.Leu113=
NM_002386.3:c.337C>T NP_002377.4:p.Leu113=
NM_002386.4:c.337C>T MANE Select NP_002377.4:p.Leu113=
Search 100 bp 5'
Search 100 bp 3'