Canonical Allele Identifier: CA371446177

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87588139A>T (hg19) ; chr8:g.86575911A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2323T>A MANE Select	ENSP00000316605.5:p.Leu775Ile
ENST00000681546.1:n.2143T>A
ENST00000681746.1:c.*734T>A	ENSP00000505959.1:n.*734T>A
ENST00000320005.5:c.2323T>A	ENSP00000316605.5:p.Leu775Ile
ENST00000517327.5:c.276+2778T>A	ENSP00000428329.1:n.276+2778T>A
NM_019098.4:c.2323T>A	NP_061971.3:p.Leu775Ile
XM_011517138.1:c.1909T>A	XP_011515440.1:p.Leu637Ile
XM_011517138.2:c.1909T>A	XP_011515440.1:p.Leu637Ile
NM_019098.5:c.2323T>A MANE Select	NP_061971.3:p.Leu775Ile