Canonical Allele Identifier: CA1139665004

Gene: MC1R

Linked Data

• ClinVar Variation Id: 938764
• ClinVar RCV Id: RCV001208045
• dbSNP Id: rs2045689133

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919312del , CM000678.2:g.89919312del	GRCh38
NC_000016.9:g.89985720del , CM000678.1:g.89985720del	GRCh37
NC_000016.8:g.88513221del	NCBI36
NG_012026.1:g.6434del
NG_027810.1:g.2304del

Transcript Alleles

HGVS	Amino-acid change
ENST00000555147.2:c.54del MANE Select	ENSP00000451605.1:p.Thr19GlnfsTer?
ENST00000639847.1:c.54del	ENSP00000492011.1:p.Thr19GlnfsTer?
ENST00000555147.1:c.54del	ENSP00000451605.1:p.Thr19GlnfsTer?
ENST00000555427.1:c.54del	ENSP00000451760.1:p.Thr19GlnfsTer?
ENST00000556922.1:c.54del	ENSP00000451560.1:p.Thr19GlnfsTer?
NM_002386.3:c.54del	NP_002377.4:p.Thr19GlnfsTer?
NM_002386.4:c.54del MANE Select	NP_002377.4:p.Thr19GlnfsTer?