Canonical Allele Identifier: CA582916690

Gene: CNGB3

Linked Data

• dbSNP Id: rs939185987
• gnomAD v2: 8-87655877-T-G
• gnomAD v3: 8-86643649-T-G
• gnomAD v4: 8-86643649-T-G
• MyVariant Identifiers: chr8:g.87655877T>G (hg19) ; chr8:g.86643649T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643649T>G , CM000670.2:g.86643649T>G	GRCh38
NC_000008.10:g.87655877T>G , CM000670.1:g.87655877T>G	GRCh37
NC_000008.9:g.87724993T>G	NCBI36
NG_016980.1:g.105027A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1178+102A>C MANE Select	ENSP00000316605.5:n.1178+102A>C
ENST00000681546.1:n.998+102A>C
ENST00000681746.1:c.1178+102A>C	ENSP00000505959.1:n.1178+102A>C
ENST00000320005.5:c.1178+102A>C	ENSP00000316605.5:n.1178+102A>C
NM_019098.4:c.1178+102A>C	NP_061971.3:n.1178+102A>C
XM_011517138.1:c.764+102A>C	XP_011515440.1:n.764+102A>C
XM_011517138.2:c.764+102A>C	XP_011515440.1:n.764+102A>C
NM_019098.5:c.1178+102A>C MANE Select	NP_061971.3:n.1178+102A>C