Canonical Allele Identifier: CA4800421

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 2025420
• ClinVar RCV Id: RCV002853141
• dbSNP Id: rs748730012
• ExAC: 8:87683336 A / G
• gnomAD v2: 8-87683336-A-G
• gnomAD v4: 8-86671108-A-G
• MyVariant Identifiers: chr8:g.87683336A>G (hg19) ; chr8:g.86671108A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671108A>G , CM000670.2:g.86671108A>G	GRCh38
NC_000008.10:g.87683336A>G , CM000670.1:g.87683336A>G	GRCh37
NC_000008.9:g.87752452A>G	NCBI36
NG_016980.1:g.77568T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.339-10T>C MANE Select	ENSP00000316605.5:n.339-10T>C
ENST00000680314.1:n.100-10T>C
ENST00000681746.1:c.339-10T>C	ENSP00000505959.1:n.339-10T>C
ENST00000320005.5:c.339-10T>C	ENSP00000316605.5:n.339-10T>C
NM_019098.4:c.339-10T>C	NP_061971.3:n.339-10T>C
XM_011517138.1:c.-76-10T>C	XP_011515440.1:n.-76-10T>C
XM_011517138.2:c.-76-10T>C	XP_011515440.1:n.-76-10T>C
NM_019098.5:c.339-10T>C MANE Select	NP_061971.3:n.339-10T>C