Canonical Allele Identifier: CA1116224958
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1822992578
gnomAD v3: 8-86633020-C-T
gnomAD v4: 8-86633020-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86633020C>T , CM000670.2:g.86633020C>T GRCh38
NC_000008.10:g.87645248C>T , CM000670.1:g.87645248C>T GRCh37
NC_000008.9:g.87714364C>T NCBI36
NG_016980.1:g.115656G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1179-127G>A MANE Select ENSP00000316605.5:n.1179-127G>A
ENST00000681546.1:n.999-127G>A
ENST00000681746.1:c.1179-127G>A ENSP00000505959.1:n.1179-127G>A
ENST00000320005.5:c.1179-127G>A ENSP00000316605.5:n.1179-127G>A
NM_019098.4:c.1179-127G>A NP_061971.3:n.1179-127G>A
XM_011517138.1:c.765-127G>A XP_011515440.1:n.765-127G>A
XM_011517138.2:c.765-127G>A XP_011515440.1:n.765-127G>A
NM_019098.5:c.1179-127G>A MANE Select NP_061971.3:n.1179-127G>A
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