Canonical Allele Identifier: CA1799829064
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670604G= , CM000670.2:g.86670604G= GRCh38
NC_000008.10:g.87682832G= , CM000670.1:g.87682832G= GRCh37
NC_000008.9:g.87751948G= NCBI36
NG_016980.1:g.78072C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+340C= MANE Select ENSP00000316605.5:n.493+340C=
ENST00000680314.1:n.254+340C=
ENST00000681746.1:c.493+340C= ENSP00000505959.1:n.493+340C=
ENST00000320005.5:c.493+340C= ENSP00000316605.5:n.493+340C=
NM_019098.4:c.493+340C= NP_061971.3:n.493+340C=
XM_011517138.1:c.79+340C= XP_011515440.1:n.79+340C=
XM_011517138.2:c.79+340C= XP_011515440.1:n.79+340C=
NM_019098.5:c.493+340C= MANE Select NP_061971.3:n.493+340C=
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