Canonical Allele Identifier: CA856380026
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1490805708
gnomAD v3: 8-86739916-C-A
gnomAD v4: 8-86739916-C-A
MyVariant Identifiers: chr8:g.87752144C>A (hg19) chr8:g.86739916C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739916C>A , CM000670.2:g.86739916C>A GRCh38
NC_000008.10:g.87752144C>A , CM000670.1:g.87752144C>A GRCh37
NC_000008.9:g.87821260C>A NCBI36
NG_016980.1:g.8760G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-180G>T MANE Select ENSP00000316605.5:n.130-180G>T
ENST00000681746.1:c.130-180G>T ENSP00000505959.1:n.130-180G>T
ENST00000320005.5:c.130-180G>T ENSP00000316605.5:n.130-180G>T
ENST00000519777.1:n.112-180G>T
NM_019098.4:c.130-180G>T NP_061971.3:n.130-180G>T
NM_019098.5:c.130-180G>T MANE Select NP_061971.3:n.130-180G>T
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