Canonical Allele Identifier: CA582914493

Gene: CNGB3

Linked Data

• dbSNP Id: rs1413187809
• gnomAD v2: 8-87645336-G-A
• gnomAD v3: 8-86633108-G-A
• gnomAD v4: 8-86633108-G-A
• MyVariant Identifiers: chr8:g.87645336G>A (hg19) ; chr8:g.86633108G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86633108G>A , CM000670.2:g.86633108G>A	GRCh38
NC_000008.10:g.87645336G>A , CM000670.1:g.87645336G>A	GRCh37
NC_000008.9:g.87714452G>A	NCBI36
NG_016980.1:g.115568C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1179-215C>T MANE Select	ENSP00000316605.5:n.1179-215C>T
ENST00000681546.1:n.999-215C>T
ENST00000681746.1:c.1179-215C>T	ENSP00000505959.1:n.1179-215C>T
ENST00000320005.5:c.1179-215C>T	ENSP00000316605.5:n.1179-215C>T
NM_019098.4:c.1179-215C>T	NP_061971.3:n.1179-215C>T
XM_011517138.1:c.765-215C>T	XP_011515440.1:n.765-215C>T
XM_011517138.2:c.765-215C>T	XP_011515440.1:n.765-215C>T
NM_019098.5:c.1179-215C>T MANE Select	NP_061971.3:n.1179-215C>T