Canonical Allele Identifier: CA1799829089
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670625G= , CM000670.2:g.86670625G= GRCh38
NC_000008.10:g.87682853G= , CM000670.1:g.87682853G= GRCh37
NC_000008.9:g.87751969G= NCBI36
NG_016980.1:g.78051C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+319C= MANE Select ENSP00000316605.5:n.493+319C=
ENST00000680314.1:n.254+319C=
ENST00000681746.1:c.493+319C= ENSP00000505959.1:n.493+319C=
ENST00000320005.5:c.493+319C= ENSP00000316605.5:n.493+319C=
NM_019098.4:c.493+319C= NP_061971.3:n.493+319C=
XM_011517138.1:c.79+319C= XP_011515440.1:n.79+319C=
XM_011517138.2:c.79+319C= XP_011515440.1:n.79+319C=
NM_019098.5:c.493+319C= MANE Select NP_061971.3:n.493+319C=
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