Canonical Allele Identifier: CA371446507

Gene: CNGB3

Linked Data

• dbSNP Id: rs1442110643
• gnomAD v3: 8-86576060-T-C
• gnomAD v4: 8-86576060-T-C
• MyVariant Identifiers: chr8:g.87588288T>C (hg19) ; chr8:g.86576060T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576060T>C , CM000670.2:g.86576060T>C	GRCh38
NC_000008.10:g.87588288T>C , CM000670.1:g.87588288T>C	GRCh37
NC_000008.9:g.87657404T>C	NCBI36
NG_016980.1:g.172616A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2174A>G MANE Select	ENSP00000316605.5:p.Asp725Gly
ENST00000681546.1:n.1994A>G
ENST00000681746.1:c.*585A>G	ENSP00000505959.1:n.*585A>G
ENST00000320005.5:c.2174A>G	ENSP00000316605.5:p.Asp725Gly
ENST00000517327.5:c.276+2629A>G	ENSP00000428329.1:n.276+2629A>G
NM_019098.4:c.2174A>G	NP_061971.3:p.Asp725Gly
XM_011517138.1:c.1760A>G	XP_011515440.1:p.Asp587Gly
XM_011517138.2:c.1760A>G	XP_011515440.1:p.Asp587Gly
NM_019098.5:c.2174A>G MANE Select	NP_061971.3:p.Asp725Gly