Canonical Allele Identifier: CA4800425

Gene: CNGB3

Linked Data

• dbSNP Id: rs771144707
• ExAC: 8:87683355 A / G
• gnomAD v2: 8-87683355-A-G
• gnomAD v4: 8-86671127-A-G
• MyVariant Identifiers: chr8:g.87683355A>G (hg19) ; chr8:g.86671127A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671127A>G , CM000670.2:g.86671127A>G	GRCh38
NC_000008.10:g.87683355A>G , CM000670.1:g.87683355A>G	GRCh37
NC_000008.9:g.87752471A>G	NCBI36
NG_016980.1:g.77549T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.339-29T>C MANE Select	ENSP00000316605.5:n.339-29T>C
ENST00000680314.1:n.100-29T>C
ENST00000681746.1:c.339-29T>C	ENSP00000505959.1:n.339-29T>C
ENST00000320005.5:c.339-29T>C	ENSP00000316605.5:n.339-29T>C
NM_019098.4:c.339-29T>C	NP_061971.3:n.339-29T>C
XM_011517138.1:c.-76-29T>C	XP_011515440.1:n.-76-29T>C
XM_011517138.2:c.-76-29T>C	XP_011515440.1:n.-76-29T>C
NM_019098.5:c.339-29T>C MANE Select	NP_061971.3:n.339-29T>C