Canonical Allele Identifier: CA4800138

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 1125702
• ClinVar RCV Id: RCV001457508
• dbSNP Id: rs375837622
• ExAC: 8:87655968 T / C
• gnomAD v2: 8-87655968-T-C
• gnomAD v3: 8-86643740-T-C
• gnomAD v4: 8-86643740-T-C
• MyVariant Identifiers: chr8:g.87655968T>C (hg19) ; chr8:g.86643740T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643740T>C , CM000670.2:g.86643740T>C	GRCh38
NC_000008.10:g.87655968T>C , CM000670.1:g.87655968T>C	GRCh37
NC_000008.9:g.87725084T>C	NCBI36
NG_016980.1:g.104936A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1178+11A>G MANE Select	ENSP00000316605.5:n.1178+11A>G
ENST00000681546.1:n.998+11A>G
ENST00000681746.1:c.1178+11A>G	ENSP00000505959.1:n.1178+11A>G
ENST00000320005.5:c.1178+11A>G	ENSP00000316605.5:n.1178+11A>G
NM_019098.4:c.1178+11A>G	NP_061971.3:n.1178+11A>G
XM_011517138.1:c.764+11A>G	XP_011515440.1:n.764+11A>G
XM_011517138.2:c.764+11A>G	XP_011515440.1:n.764+11A>G
NM_019098.5:c.1178+11A>G MANE Select	NP_061971.3:n.1178+11A>G