Canonical Allele Identifier: CA371446558

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 2001409
• ClinVar RCV Id: RCV002815412
• dbSNP Id: rs1198416238
• MyVariant Identifiers: chr8:g.87588308A>C (hg19) ; chr8:g.86576080A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576080A>C , CM000670.2:g.86576080A>C	GRCh38
NC_000008.10:g.87588308A>C , CM000670.1:g.87588308A>C	GRCh37
NC_000008.9:g.87657424A>C	NCBI36
NG_016980.1:g.172596T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2154T>G MANE Select	ENSP00000316605.5:p.Asp718Glu
ENST00000681546.1:n.1974T>G
ENST00000681746.1:c.*565T>G	ENSP00000505959.1:n.*565T>G
ENST00000320005.5:c.2154T>G	ENSP00000316605.5:p.Asp718Glu
ENST00000517327.5:c.276+2609T>G	ENSP00000428329.1:n.276+2609T>G
NM_019098.4:c.2154T>G	NP_061971.3:p.Asp718Glu
XM_011517138.1:c.1740T>G	XP_011515440.1:p.Asp580Glu
XM_011517138.2:c.1740T>G	XP_011515440.1:p.Asp580Glu
NM_019098.5:c.2154T>G MANE Select	NP_061971.3:p.Asp718Glu