Canonical Allele Identifier: CA4800317

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 1528073
• ClinVar RCV Id: RCV002077410
• dbSNP Id: rs774662945
• ExAC: 8:87679374 C / A
• gnomAD v2: 8-87679374-C-A
• gnomAD v3: 8-86667146-C-A
• gnomAD v4: 8-86667146-C-A
• MyVariant Identifiers: chr8:g.87679374C>A (hg19) ; chr8:g.86667146C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86667146C>A , CM000670.2:g.86667146C>A	GRCh38
NC_000008.10:g.87679374C>A , CM000670.1:g.87679374C>A	GRCh37
NC_000008.9:g.87748490C>A	NCBI36
NG_016980.1:g.81530G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.644-13G>T MANE Select	ENSP00000316605.5:n.644-13G>T
ENST00000681746.1:c.644-13G>T	ENSP00000505959.1:n.644-13G>T
ENST00000320005.5:c.644-13G>T	ENSP00000316605.5:n.644-13G>T
NM_019098.4:c.644-13G>T	NP_061971.3:n.644-13G>T
XM_011517138.1:c.230-13G>T	XP_011515440.1:n.230-13G>T
XM_011517138.2:c.230-13G>T	XP_011515440.1:n.230-13G>T
NM_019098.5:c.644-13G>T MANE Select	NP_061971.3:n.644-13G>T