Canonical Allele Identifier: CA2579199872
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2909926
ClinVar RCV Id: RCV003732509
gnomAD v4: 8-86578876-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86578876G>C , CM000670.2:g.86578876G>C GRCh38
NC_000008.10:g.87591104G>C , CM000670.1:g.87591104G>C GRCh37
NC_000008.9:g.87660220G>C NCBI36
NG_016980.1:g.169800C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1929-13C>G MANE Select ENSP00000316605.5:n.1929-13C>G
ENST00000681546.1:n.1749-13C>G
ENST00000681746.1:c.*340-13C>G ENSP00000505959.1:n.*340-13C>G
ENST00000320005.5:c.1929-13C>G ENSP00000316605.5:n.1929-13C>G
ENST00000517327.5:c.102-13C>G ENSP00000428329.1:n.102-13C>G
NM_019098.4:c.1929-13C>G NP_061971.3:n.1929-13C>G
XM_011517138.1:c.1515-13C>G XP_011515440.1:n.1515-13C>G
XM_011517138.2:c.1515-13C>G XP_011515440.1:n.1515-13C>G
NM_019098.5:c.1929-13C>G MANE Select NP_061971.3:n.1929-13C>G
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