Canonical Allele Identifier: CA397460802
Gene: MC1R HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.89986107C>G (hg19) chr16:g.89919699C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919699C>G , CM000678.2:g.89919699C>G GRCh38
NC_000016.9:g.89986107C>G , CM000678.1:g.89986107C>G GRCh37
NC_000016.8:g.88513608C>G NCBI36
NG_012026.1:g.6821C>G
NG_027810.1:g.2691C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.441C>G MANE Select ENSP00000451605.1:p.Phe147Leu
ENST00000639847.1:c.441C>G ENSP00000492011.1:p.Phe147Leu
ENST00000555147.1:c.441C>G ENSP00000451605.1:p.Phe147Leu
ENST00000555427.1:c.441C>G ENSP00000451760.1:p.Phe147Leu
ENST00000556922.1:c.441C>G ENSP00000451560.1:p.Phe147Leu
NM_002386.3:c.441C>G NP_002377.4:p.Phe147Leu
NM_002386.4:c.441C>G MANE Select NP_002377.4:p.Phe147Leu
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