Canonical Allele Identifier: CA462114255
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87588260T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576032T>G , CM000670.2:g.86576032T>G GRCh38
NC_000008.10:g.87588260T>G , CM000670.1:g.87588260T>G GRCh37
NC_000008.9:g.87657376T>G NCBI36
NG_016980.1:g.172644A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2202A>C MANE Select ENSP00000316605.5:p.Gly734=
ENST00000681546.1:n.2022A>C
ENST00000681746.1:c.*613A>C ENSP00000505959.1:n.*613A>C
ENST00000320005.5:c.2202A>C ENSP00000316605.5:p.Gly734=
ENST00000517327.5:c.276+2657A>C ENSP00000428329.1:n.276+2657A>C
NM_019098.4:c.2202A>C NP_061971.3:p.Gly734=
XM_011517138.1:c.1788A>C XP_011515440.1:p.Gly596=
XM_011517138.2:c.1788A>C XP_011515440.1:p.Gly596=
NM_019098.5:c.2202A>C MANE Select NP_061971.3:p.Gly734=
Search 100 bp 5'
Search 100 bp 3'