Canonical Allele Identifier: CA371446493

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87588282T>A (hg19) ; chr8:g.86576054T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576054T>A , CM000670.2:g.86576054T>A	GRCh38
NC_000008.10:g.87588282T>A , CM000670.1:g.87588282T>A	GRCh37
NC_000008.9:g.87657398T>A	NCBI36
NG_016980.1:g.172622A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2180A>T MANE Select	ENSP00000316605.5:p.Gln727Leu
ENST00000681546.1:n.2000A>T
ENST00000681746.1:c.*591A>T	ENSP00000505959.1:n.*591A>T
ENST00000320005.5:c.2180A>T	ENSP00000316605.5:p.Gln727Leu
ENST00000517327.5:c.276+2635A>T	ENSP00000428329.1:n.276+2635A>T
NM_019098.4:c.2180A>T	NP_061971.3:p.Gln727Leu
XM_011517138.1:c.1766A>T	XP_011515440.1:p.Gln589Leu
XM_011517138.2:c.1766A>T	XP_011515440.1:p.Gln589Leu
NM_019098.5:c.2180A>T MANE Select	NP_061971.3:p.Gln727Leu