Canonical Allele Identifier: CA371444254
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87645048A>C (hg19) chr8:g.86632820A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632820A>C , CM000670.2:g.86632820A>C GRCh38
NC_000008.10:g.87645048A>C , CM000670.1:g.87645048A>C GRCh37
NC_000008.9:g.87714164A>C NCBI36
NG_016980.1:g.115856T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1252T>G MANE Select ENSP00000316605.5:p.Phe418Val
ENST00000681546.1:n.1072T>G
ENST00000681746.1:c.1252T>G ENSP00000505959.1:p.Phe418Val
ENST00000320005.5:c.1252T>G ENSP00000316605.5:p.Phe418Val
NM_019098.4:c.1252T>G NP_061971.3:p.Phe418Val
XM_011517138.1:c.838T>G XP_011515440.1:p.Phe280Val
XM_011517138.2:c.838T>G XP_011515440.1:p.Phe280Val
NM_019098.5:c.1252T>G MANE Select NP_061971.3:p.Phe418Val
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