Canonical Allele Identifier: CA2580078983

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 2015893
• ClinVar RCV Id: RCV002846584

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576069del , CM000670.2:g.86576069del	GRCh38
NC_000008.10:g.87588297del , CM000670.1:g.87588297del	GRCh37
NC_000008.9:g.87657413del	NCBI36
NG_016980.1:g.172610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2168del MANE Select	ENSP00000316605.5:p.Asn723MetfsTer?
ENST00000681546.1:n.1988del
ENST00000681746.1:c.*579del	ENSP00000505959.1:n.*579del
ENST00000320005.5:c.2168del	ENSP00000316605.5:p.Asn723MetfsTer?
ENST00000517327.5:c.276+2623del	ENSP00000428329.1:n.276+2623del
NM_019098.4:c.2168del	NP_061971.3:p.Asn723MetfsTer?
XM_011517138.1:c.1754del	XP_011515440.1:p.Asn585MetfsTer?
XM_011517138.2:c.1754del	XP_011515440.1:p.Asn585MetfsTer?
NM_019098.5:c.2168del MANE Select	NP_061971.3:p.Asn723MetfsTer?