Canonical Allele Identifier: CA371444230
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87645043T>G (hg19) chr8:g.86632815T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632815T>G , CM000670.2:g.86632815T>G GRCh38
NC_000008.10:g.87645043T>G , CM000670.1:g.87645043T>G GRCh37
NC_000008.9:g.87714159T>G NCBI36
NG_016980.1:g.115861A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1257A>C MANE Select ENSP00000316605.5:p.Glu419Asp
ENST00000681546.1:n.1077A>C
ENST00000681746.1:c.1257A>C ENSP00000505959.1:p.Glu419Asp
ENST00000320005.5:c.1257A>C ENSP00000316605.5:p.Glu419Asp
NM_019098.4:c.1257A>C NP_061971.3:p.Glu419Asp
XM_011517138.1:c.843A>C XP_011515440.1:p.Glu281Asp
XM_011517138.2:c.843A>C XP_011515440.1:p.Glu281Asp
NM_019098.5:c.1257A>C MANE Select NP_061971.3:p.Glu419Asp
Search 100 bp 5'
Search 100 bp 3'