Canonical Allele Identifier: CA461805516

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 1628255
• ClinVar RCV Id: RCV002123443
• dbSNP Id: rs2131532126
• MyVariant Identifiers: chr8:g.87591001G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86578773G>A , CM000670.2:g.86578773G>A	GRCh38
NC_000008.10:g.87591001G>A , CM000670.1:g.87591001G>A	GRCh37
NC_000008.9:g.87660117G>A	NCBI36
NG_016980.1:g.169903C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.2019C>T MANE Select	ENSP00000316605.5:p.Pro673=
ENST00000681546.1:n.1839C>T
ENST00000681746.1:c.*430C>T	ENSP00000505959.1:n.*430C>T
ENST00000320005.5:c.2019C>T	ENSP00000316605.5:p.Pro673=
ENST00000517327.5:c.192C>T	ENSP00000428329.1:p.Pro64=
NM_019098.4:c.2019C>T	NP_061971.3:p.Pro673=
XM_011517138.1:c.1605C>T	XP_011515440.1:p.Pro535=
XM_011517138.2:c.1605C>T	XP_011515440.1:p.Pro535=
NM_019098.5:c.2019C>T MANE Select	NP_061971.3:p.Pro673=