Canonical Allele Identifier: CA371449719
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87680260T>C (hg19) chr8:g.86668032T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668032T>C , CM000670.2:g.86668032T>C GRCh38
NC_000008.10:g.87680260T>C , CM000670.1:g.87680260T>C GRCh37
NC_000008.9:g.87749376T>C NCBI36
NG_016980.1:g.80644A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.630A>G MANE Select ENSP00000316605.5:p.Ile210Met
ENST00000681746.1:c.630A>G ENSP00000505959.1:p.Ile210Met
ENST00000320005.5:c.630A>G ENSP00000316605.5:p.Ile210Met
NM_019098.4:c.630A>G NP_061971.3:p.Ile210Met
XM_011517138.1:c.216A>G XP_011515440.1:p.Ile72Met
XM_011517138.2:c.216A>G XP_011515440.1:p.Ile72Met
NM_019098.5:c.630A>G MANE Select NP_061971.3:p.Ile210Met
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