Canonical Allele Identifier: CA8255473

Gene: MC1R

Linked Data

• ClinVar Variation Id: 884727
• ClinVar RCV Id: RCV001115923
• dbSNP Id: rs773395822
• ExAC: 16:89985732 C / T
• gnomAD v2: 16-89985732-C-T
• gnomAD v3: 16-89919324-C-T
• gnomAD v4: 16-89919324-C-T
• MyVariant Identifiers: chr16:g.89985732C>T (hg19) ; chr16:g.89919324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919324C>T , CM000678.2:g.89919324C>T	GRCh38
NC_000016.9:g.89985732C>T , CM000678.1:g.89985732C>T	GRCh37
NC_000016.8:g.88513233C>T	NCBI36
NG_012026.1:g.6446C>T
NG_027810.1:g.2316C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000555147.2:c.66C>T MANE Select	ENSP00000451605.1:p.Pro22=
ENST00000639847.1:c.66C>T	ENSP00000492011.1:p.Pro22=
ENST00000555147.1:c.66C>T	ENSP00000451605.1:p.Pro22=
ENST00000555427.1:c.66C>T	ENSP00000451760.1:p.Pro22=
ENST00000556922.1:c.66C>T	ENSP00000451560.1:p.Pro22=
NM_002386.3:c.66C>T	NP_002377.4:p.Pro22=
NM_002386.4:c.66C>T MANE Select	NP_002377.4:p.Pro22=