Canonical Allele Identifier: CA582921385
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1345081391
gnomAD v2: 8-87683623-G-A
gnomAD v3: 8-86671395-G-A
gnomAD v4: 8-86671395-G-A
MyVariant Identifiers: chr8:g.87683623G>A (hg19) chr8:g.86671395G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671395G>A , CM000670.2:g.86671395G>A GRCh38
NC_000008.10:g.87683623G>A , CM000670.1:g.87683623G>A GRCh37
NC_000008.9:g.87752739G>A NCBI36
NG_016980.1:g.77281C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.339-297C>T MANE Select ENSP00000316605.5:n.339-297C>T
ENST00000680314.1:n.100-297C>T
ENST00000681746.1:c.339-297C>T ENSP00000505959.1:n.339-297C>T
ENST00000320005.5:c.339-297C>T ENSP00000316605.5:n.339-297C>T
NM_019098.4:c.339-297C>T NP_061971.3:n.339-297C>T
XM_011517138.1:c.-76-297C>T XP_011515440.1:n.-76-297C>T
XM_011517138.2:c.-76-297C>T XP_011515440.1:n.-76-297C>T
NM_019098.5:c.339-297C>T MANE Select NP_061971.3:n.339-297C>T
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