Canonical Allele Identifier: CA371446795

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87656025C>A (hg19) ; chr8:g.86643797C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643797C>A , CM000670.2:g.86643797C>A	GRCh38
NC_000008.10:g.87656025C>A , CM000670.1:g.87656025C>A	GRCh37
NC_000008.9:g.87725141C>A	NCBI36
NG_016980.1:g.104879G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1132G>T MANE Select	ENSP00000316605.5:p.Glu378Ter
ENST00000681546.1:n.952G>T
ENST00000681746.1:c.1132G>T	ENSP00000505959.1:p.Glu378Ter
ENST00000320005.5:c.1132G>T	ENSP00000316605.5:p.Glu378Ter
NM_019098.4:c.1132G>T	NP_061971.3:p.Glu378Ter
XM_011517138.1:c.718G>T	XP_011515440.1:p.Glu240Ter
XM_011517138.2:c.718G>T	XP_011515440.1:p.Glu240Ter
NM_019098.5:c.1132G>T MANE Select	NP_061971.3:p.Glu378Ter