Canonical Allele Identifier: CA2579199855
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86576227-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576227G>T , CM000670.2:g.86576227G>T GRCh38
NC_000008.10:g.87588455G>T , CM000670.1:g.87588455G>T GRCh37
NC_000008.9:g.87657571G>T NCBI36
NG_016980.1:g.172449C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2104-97C>A MANE Select ENSP00000316605.5:n.2104-97C>A
ENST00000681546.1:n.1924-97C>A
ENST00000681746.1:c.*515-97C>A ENSP00000505959.1:n.*515-97C>A
ENST00000320005.5:c.2104-97C>A ENSP00000316605.5:n.2104-97C>A
ENST00000517327.5:c.276+2462C>A ENSP00000428329.1:n.276+2462C>A
NM_019098.4:c.2104-97C>A NP_061971.3:n.2104-97C>A
XM_011517138.1:c.1690-97C>A XP_011515440.1:n.1690-97C>A
XM_011517138.2:c.1690-97C>A XP_011515440.1:n.1690-97C>A
NM_019098.5:c.2104-97C>A MANE Select NP_061971.3:n.2104-97C>A
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