Canonical Allele Identifier: CA4800140

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 846149
• ClinVar RCV Id: RCV001049381 ; RCV001272743 ; RCV003987767
• dbSNP Id: rs151236891
• ExAC: 8:87655973 A / G
• gnomAD v2: 8-87655973-A-G
• gnomAD v3: 8-86643745-A-G
• gnomAD v4: 8-86643745-A-G
• MyVariant Identifiers: chr8:g.87655973A>G (hg19) ; chr8:g.86643745A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643745A>G , CM000670.2:g.86643745A>G	GRCh38
NC_000008.10:g.87655973A>G , CM000670.1:g.87655973A>G	GRCh37
NC_000008.9:g.87725089A>G	NCBI36
NG_016980.1:g.104931T>C

Transcript Alleles

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