Canonical Allele Identifier: CA180348966

Gene: CNGB3

Linked Data

• dbSNP Id: rs938269452
• gnomAD v2: 8-87616231-A-C
• gnomAD v3: 8-86604003-A-C
• gnomAD v4: 8-86604003-A-C
• MyVariant Identifiers: chr8:g.87616231A>C (hg19) ; chr8:g.86604003A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86604003A>C , CM000670.2:g.86604003A>C	GRCh38
NC_000008.10:g.87616231A>C , CM000670.1:g.87616231A>C	GRCh37
NC_000008.9:g.87685347A>C	NCBI36
NG_016980.1:g.144673T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1781+90T>G MANE Select	ENSP00000316605.5:n.1781+90T>G
ENST00000681546.1:n.1601+90T>G
ENST00000681746.1:c.*192+90T>G	ENSP00000505959.1:n.*192+90T>G
ENST00000320005.5:c.1781+90T>G	ENSP00000316605.5:n.1781+90T>G
NM_019098.4:c.1781+90T>G	NP_061971.3:n.1781+90T>G
XM_011517138.1:c.1367+90T>G	XP_011515440.1:n.1367+90T>G
XM_011517138.2:c.1367+90T>G	XP_011515440.1:n.1367+90T>G
NM_019098.5:c.1781+90T>G MANE Select	NP_061971.3:n.1781+90T>G