Canonical Allele Identifier: CA4800392

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 285264
• ClinVar RCV Id: RCV000260872 ; RCV001272750
• dbSNP Id: rs151230930
• ExAC: 8:87683191 G / A
• gnomAD v2: 8-87683191-G-A
• gnomAD v3: 8-86670963-G-A
• gnomAD v4: 8-86670963-G-A
• MyVariant Identifiers: chr8:g.87683191G>A (hg19) ; chr8:g.86670963G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670963G>A , CM000670.2:g.86670963G>A	GRCh38
NC_000008.10:g.87683191G>A , CM000670.1:g.87683191G>A	GRCh37
NC_000008.9:g.87752307G>A	NCBI36
NG_016980.1:g.77713C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.474C>T MANE Select	ENSP00000316605.5:p.Pro158=
ENST00000680314.1:n.235C>T
ENST00000681746.1:c.474C>T	ENSP00000505959.1:p.Pro158=
ENST00000320005.5:c.474C>T	ENSP00000316605.5:p.Pro158=
NM_019098.4:c.474C>T	NP_061971.3:p.Pro158=
XM_011517138.1:c.60C>T	XP_011515440.1:p.Pro20=
XM_011517138.2:c.60C>T	XP_011515440.1:p.Pro20=
NM_019098.5:c.474C>T MANE Select	NP_061971.3:p.Pro158=