Canonical Allele Identifier: CA371446179

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86575913-A-G
• MyVariant Identifiers: chr8:g.87588141A>G (hg19) ; chr8:g.86575913A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575913A>G , CM000670.2:g.86575913A>G	GRCh38
NC_000008.10:g.87588141A>G , CM000670.1:g.87588141A>G	GRCh37
NC_000008.9:g.87657257A>G	NCBI36
NG_016980.1:g.172763T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2321T>C MANE Select	ENSP00000316605.5:p.Val774Ala
ENST00000681546.1:n.2141T>C
ENST00000681746.1:c.*732T>C	ENSP00000505959.1:n.*732T>C
ENST00000320005.5:c.2321T>C	ENSP00000316605.5:p.Val774Ala
ENST00000517327.5:c.276+2776T>C	ENSP00000428329.1:n.276+2776T>C
NM_019098.4:c.2321T>C	NP_061971.3:p.Val774Ala
XM_011517138.1:c.1907T>C	XP_011515440.1:p.Val636Ala
XM_011517138.2:c.1907T>C	XP_011515440.1:p.Val636Ala
NM_019098.5:c.2321T>C MANE Select	NP_061971.3:p.Val774Ala