Canonical Allele Identifier: CA4800384
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs372177965
ExAC: 8:87683143 T / C
gnomAD v2: 8-87683143-T-C
MyVariant Identifiers: chr8:g.87683143T>C (hg19) chr8:g.87683143_87683144delinsCC (hg19) chr8:g.86670915T>C (hg38) chr8:g.86670915_86670916delinsCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670915T>C , CM000670.2:g.86670915T>C GRCh38
NC_000008.10:g.87683143T>C , CM000670.1:g.87683143T>C GRCh37
NC_000008.9:g.87752259T>C NCBI36
NG_016980.1:g.77761A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+29A>G MANE Select ENSP00000316605.5:n.493+29A>G
ENST00000680314.1:n.254+29A>G
ENST00000681746.1:c.493+29A>G ENSP00000505959.1:n.493+29A>G
ENST00000320005.5:c.493+29A>G ENSP00000316605.5:n.493+29A>G
NM_019098.4:c.493+29A>G NP_061971.3:n.493+29A>G
XM_011517138.1:c.79+29A>G XP_011515440.1:n.79+29A>G
XM_011517138.2:c.79+29A>G XP_011515440.1:n.79+29A>G
NM_019098.5:c.493+29A>G MANE Select NP_061971.3:n.493+29A>G
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