Canonical Allele Identifier: CA371446198

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87588150C>A (hg19) ; chr8:g.86575922C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575922C>A , CM000670.2:g.86575922C>A	GRCh38
NC_000008.10:g.87588150C>A , CM000670.1:g.87588150C>A	GRCh37
NC_000008.9:g.87657266C>A	NCBI36
NG_016980.1:g.172754G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2312G>T MANE Select	ENSP00000316605.5:p.Arg771Ile
ENST00000681546.1:n.2132G>T
ENST00000681746.1:c.*723G>T	ENSP00000505959.1:n.*723G>T
ENST00000320005.5:c.2312G>T	ENSP00000316605.5:p.Arg771Ile
ENST00000517327.5:c.276+2767G>T	ENSP00000428329.1:n.276+2767G>T
NM_019098.4:c.2312G>T	NP_061971.3:p.Arg771Ile
XM_011517138.1:c.1898G>T	XP_011515440.1:p.Arg633Ile
XM_011517138.2:c.1898G>T	XP_011515440.1:p.Arg633Ile
NM_019098.5:c.2312G>T MANE Select	NP_061971.3:p.Arg771Ile