Canonical Allele Identifier: CA180366885

Gene: CNGB3

Linked Data

• dbSNP Id: rs1441241
• gnomAD v2: 8-87683516-A-T
• gnomAD v3: 8-86671288-A-T
• gnomAD v4: 8-86671288-A-T
• MyVariant Identifiers: chr8:g.87683516A>T (hg19) ; chr8:g.86671288A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671288A>T , CM000670.2:g.86671288A>T	GRCh38
NC_000008.10:g.87683516A>T , CM000670.1:g.87683516A>T	GRCh37
NC_000008.9:g.87752632A>T	NCBI36
NG_016980.1:g.77388T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.339-190T>A MANE Select	ENSP00000316605.5:n.339-190T>A
ENST00000680314.1:n.100-190T>A
ENST00000681746.1:c.339-190T>A	ENSP00000505959.1:n.339-190T>A
ENST00000320005.5:c.339-190T>A	ENSP00000316605.5:n.339-190T>A
NM_019098.4:c.339-190T>A	NP_061971.3:n.339-190T>A
XM_011517138.1:c.-76-190T>A	XP_011515440.1:n.-76-190T>A
XM_011517138.2:c.-76-190T>A	XP_011515440.1:n.-76-190T>A
NM_019098.5:c.339-190T>A MANE Select	NP_061971.3:n.339-190T>A