Canonical Allele Identifier: CA583027481
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1253274423
gnomAD v2: 8-87752161-G-A
gnomAD v3: 8-86739933-G-A
gnomAD v4: 8-86739933-G-A
MyVariant Identifiers: chr8:g.87752161G>A (hg19) chr8:g.86739933G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739933G>A , CM000670.2:g.86739933G>A GRCh38
NC_000008.10:g.87752161G>A , CM000670.1:g.87752161G>A GRCh37
NC_000008.9:g.87821277G>A NCBI36
NG_016980.1:g.8743C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-197C>T MANE Select ENSP00000316605.5:n.130-197C>T
ENST00000681746.1:c.130-197C>T ENSP00000505959.1:n.130-197C>T
ENST00000320005.5:c.130-197C>T ENSP00000316605.5:n.130-197C>T
ENST00000519777.1:n.112-197C>T
NM_019098.4:c.130-197C>T NP_061971.3:n.130-197C>T
NM_019098.5:c.130-197C>T MANE Select NP_061971.3:n.130-197C>T
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