Canonical Allele Identifier: CA4800135
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs746952154
ExAC: 8:87655957 T / G
gnomAD v2: 8-87655957-T-G
MyVariant Identifiers: chr8:g.87655957T>G (hg19) chr8:g.86643729T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643729T>G , CM000670.2:g.86643729T>G GRCh38
NC_000008.10:g.87655957T>G , CM000670.1:g.87655957T>G GRCh37
NC_000008.9:g.87725073T>G NCBI36
NG_016980.1:g.104947A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1178+22A>C MANE Select ENSP00000316605.5:n.1178+22A>C
ENST00000681546.1:n.998+22A>C
ENST00000681746.1:c.1178+22A>C ENSP00000505959.1:n.1178+22A>C
ENST00000320005.5:c.1178+22A>C ENSP00000316605.5:n.1178+22A>C
NM_019098.4:c.1178+22A>C NP_061971.3:n.1178+22A>C
XM_011517138.1:c.764+22A>C XP_011515440.1:n.764+22A>C
XM_011517138.2:c.764+22A>C XP_011515440.1:n.764+22A>C
NM_019098.5:c.1178+22A>C MANE Select NP_061971.3:n.1178+22A>C
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