Canonical Allele Identifier: CA371446176

Gene: CNGB3

Linked Data

• dbSNP Id: rs1273585908
• gnomAD v2: 8-87588139-A-C
• gnomAD v3: 8-86575911-A-C
• gnomAD v4: 8-86575911-A-C
• MyVariant Identifiers: chr8:g.87588139A>C (hg19) ; chr8:g.86575911A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575911A>C , CM000670.2:g.86575911A>C	GRCh38
NC_000008.10:g.87588139A>C , CM000670.1:g.87588139A>C	GRCh37
NC_000008.9:g.87657255A>C	NCBI36
NG_016980.1:g.172765T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2323T>G MANE Select	ENSP00000316605.5:p.Leu775Val
ENST00000681546.1:n.2143T>G
ENST00000681746.1:c.*734T>G	ENSP00000505959.1:n.*734T>G
ENST00000320005.5:c.2323T>G	ENSP00000316605.5:p.Leu775Val
ENST00000517327.5:c.276+2778T>G	ENSP00000428329.1:n.276+2778T>G
NM_019098.4:c.2323T>G	NP_061971.3:p.Leu775Val
XM_011517138.1:c.1909T>G	XP_011515440.1:p.Leu637Val
XM_011517138.2:c.1909T>G	XP_011515440.1:p.Leu637Val
NM_019098.5:c.2323T>G MANE Select	NP_061971.3:p.Leu775Val