Canonical Allele Identifier: CA371444269

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86632823-A-C
• COSMIC: COSM1102216
• MyVariant Identifiers: chr8:g.87645051A>C (hg19) ; chr8:g.86632823A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632823A>C , CM000670.2:g.86632823A>C	GRCh38
NC_000008.10:g.87645051A>C , CM000670.1:g.87645051A>C	GRCh37
NC_000008.9:g.87714167A>C	NCBI36
NG_016980.1:g.115853T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1249T>G MANE Select	ENSP00000316605.5:p.Leu417Val
ENST00000681546.1:n.1069T>G
ENST00000681746.1:c.1249T>G	ENSP00000505959.1:p.Leu417Val
ENST00000320005.5:c.1249T>G	ENSP00000316605.5:p.Leu417Val
NM_019098.4:c.1249T>G	NP_061971.3:p.Leu417Val
XM_011517138.1:c.835T>G	XP_011515440.1:p.Leu279Val
XM_011517138.2:c.835T>G	XP_011515440.1:p.Leu279Val
NM_019098.5:c.1249T>G MANE Select	NP_061971.3:p.Leu417Val