Canonical Allele Identifier: CA4799764

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 363868
• ClinVar RCV Id: RCV000277134 ; RCV000332145 ; RCV001239882
• dbSNP Id: rs3735971
• ExAC: 8:87588214 G / A
• gnomAD v2: 8-87588214-G-A
• gnomAD v3: 8-86575986-G-A
• gnomAD v4: 8-86575986-G-A
• MyVariant Identifiers: chr8:g.87588214G>A (hg19) ; chr8:g.86575986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575986G>A , CM000670.2:g.86575986G>A	GRCh38
NC_000008.10:g.87588214G>A , CM000670.1:g.87588214G>A	GRCh37
NC_000008.9:g.87657330G>A	NCBI36
NG_016980.1:g.172690C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2248C>T MANE Select	ENSP00000316605.5:p.Pro750Ser
ENST00000681546.1:n.2068C>T
ENST00000681746.1:c.*659C>T	ENSP00000505959.1:n.*659C>T
ENST00000320005.5:c.2248C>T	ENSP00000316605.5:p.Pro750Ser
ENST00000517327.5:c.276+2703C>T	ENSP00000428329.1:n.276+2703C>T
NM_019098.4:c.2248C>T	NP_061971.3:p.Pro750Ser
XM_011517138.1:c.1834C>T	XP_011515440.1:p.Pro612Ser
XM_011517138.2:c.1834C>T	XP_011515440.1:p.Pro612Ser
NM_019098.5:c.2248C>T MANE Select	NP_061971.3:p.Pro750Ser