Canonical Allele Identifier: CA1116237265
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1825312990
gnomAD v3: 8-86739906-A-G
gnomAD v4: 8-86739906-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739906A>G , CM000670.2:g.86739906A>G GRCh38
NC_000008.10:g.87752134A>G , CM000670.1:g.87752134A>G GRCh37
NC_000008.9:g.87821250A>G NCBI36
NG_016980.1:g.8770T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-170T>C MANE Select ENSP00000316605.5:n.130-170T>C
ENST00000681746.1:c.130-170T>C ENSP00000505959.1:n.130-170T>C
ENST00000320005.5:c.130-170T>C ENSP00000316605.5:n.130-170T>C
ENST00000519777.1:n.112-170T>C
NM_019098.4:c.130-170T>C NP_061971.3:n.130-170T>C
NM_019098.5:c.130-170T>C MANE Select NP_061971.3:n.130-170T>C
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