Canonical Allele Identifier: CA371444224
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87645042T>C (hg19) chr8:g.86632814T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632814T>C , CM000670.2:g.86632814T>C GRCh38
NC_000008.10:g.87645042T>C , CM000670.1:g.87645042T>C GRCh37
NC_000008.9:g.87714158T>C NCBI36
NG_016980.1:g.115862A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1258A>G MANE Select ENSP00000316605.5:p.Ile420Val
ENST00000681546.1:n.1078A>G
ENST00000681746.1:c.1258A>G ENSP00000505959.1:p.Ile420Val
ENST00000320005.5:c.1258A>G ENSP00000316605.5:p.Ile420Val
NM_019098.4:c.1258A>G NP_061971.3:p.Ile420Val
XM_011517138.1:c.844A>G XP_011515440.1:p.Ile282Val
XM_011517138.2:c.844A>G XP_011515440.1:p.Ile282Val
NM_019098.5:c.1258A>G MANE Select NP_061971.3:p.Ile420Val
Search 100 bp 5'
Search 100 bp 3'