Canonical Allele Identifier: CA1116229650
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1821661081
gnomAD v3: 8-86576297-T-C
gnomAD v4: 8-86576297-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576297T>C , CM000670.2:g.86576297T>C GRCh38
NC_000008.10:g.87588525T>C , CM000670.1:g.87588525T>C GRCh37
NC_000008.9:g.87657641T>C NCBI36
NG_016980.1:g.172379A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2104-167A>G MANE Select ENSP00000316605.5:n.2104-167A>G
ENST00000681546.1:n.1924-167A>G
ENST00000681746.1:c.*515-167A>G ENSP00000505959.1:n.*515-167A>G
ENST00000320005.5:c.2104-167A>G ENSP00000316605.5:n.2104-167A>G
ENST00000517327.5:c.276+2392A>G ENSP00000428329.1:n.276+2392A>G
NM_019098.4:c.2104-167A>G NP_061971.3:n.2104-167A>G
XM_011517138.1:c.1690-167A>G XP_011515440.1:n.1690-167A>G
XM_011517138.2:c.1690-167A>G XP_011515440.1:n.1690-167A>G
NM_019098.5:c.2104-167A>G MANE Select NP_061971.3:n.2104-167A>G
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