Canonical Allele Identifier: CA180333689

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 2013529
• ClinVar RCV Id: RCV002834738
• dbSNP Id: rs932823194
• gnomAD v2: 8-87591441-A-T
• gnomAD v3: 8-86579213-A-T
• gnomAD v4: 8-86579213-A-T
• MyVariant Identifiers: chr8:g.87591441A>T (hg19) ; chr8:g.86579213A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86579213A>T , CM000670.2:g.86579213A>T	GRCh38
NC_000008.10:g.87591441A>T , CM000670.1:g.87591441A>T	GRCh37
NC_000008.9:g.87660557A>T	NCBI36
NG_016980.1:g.169463T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1821T>A MANE Select	ENSP00000316605.5:p.Asn607Lys
ENST00000681546.1:n.1641T>A
ENST00000681746.1:c.*232T>A	ENSP00000505959.1:n.*232T>A
ENST00000320005.5:c.1821T>A	ENSP00000316605.5:p.Asn607Lys
NM_019098.4:c.1821T>A	NP_061971.3:p.Asn607Lys
XM_011517138.1:c.1407T>A	XP_011515440.1:p.Asn469Lys
XM_011517138.2:c.1407T>A	XP_011515440.1:p.Asn469Lys
NM_019098.5:c.1821T>A MANE Select	NP_061971.3:p.Asn607Lys