Canonical Allele Identifier: CA8255579
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 696636
dbSNP Id: rs377411334
COSMIC: COSM975009

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919672C>T , CM000678.2:g.89919672C>T GRCh38
NC_000016.9:g.89986080C>T , CM000678.1:g.89986080C>T GRCh37
NC_000016.8:g.88513581C>T NCBI36
NG_012026.1:g.6794C>T
NG_027810.1:g.2664C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.414C>T MANE Select ENSP00000451605.1:p.Ile138=
ENST00000639847.1:c.414C>T ENSP00000492011.1:p.Ile138=
ENST00000555147.1:c.414C>T ENSP00000451605.1:p.Ile138=
ENST00000555427.1:c.414C>T ENSP00000451760.1:p.Ile138=
ENST00000556922.1:c.414C>T ENSP00000451560.1:p.Ile138=
NM_002386.3:c.414C>T NP_002377.4:p.Ile138=
NM_002386.4:c.414C>T MANE Select NP_002377.4:p.Ile138=