Canonical Allele Identifier: CA397462572

Gene: MC1R

Linked Data

• gnomAD v4: 16-89919909-C-G
• MyVariant Identifiers: chr16:g.89986317C>G (hg19) ; chr16:g.89919909C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919909C>G , CM000678.2:g.89919909C>G	GRCh38
NC_000016.9:g.89986317C>G , CM000678.1:g.89986317C>G	GRCh37
NC_000016.8:g.88513818C>G	NCBI36
NG_012026.1:g.7031C>G
NG_027810.1:g.2901C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.651C>G MANE Select	ENSP00000451605.1:p.His217Gln
ENST00000639847.1:c.651C>G	ENSP00000492011.1:p.His217Gln
ENST00000555147.1:c.651C>G	ENSP00000451605.1:p.His217Gln
ENST00000555427.1:c.651C>G	ENSP00000451760.1:p.His217Gln
ENST00000556922.1:c.651C>G	ENSP00000451560.1:p.His217Gln
NM_002386.3:c.651C>G	NP_002377.4:p.His217Gln
NM_002386.4:c.651C>G MANE Select	NP_002377.4:p.His217Gln