Canonical Allele Identifier: CA582906362

Gene: CNGB3

Linked Data

• dbSNP Id: rs1363096786
• gnomAD v2: 8-87588527-C-G
• gnomAD v3: 8-86576299-C-G
• gnomAD v4: 8-86576299-C-G
• MyVariant Identifiers: chr8:g.87588527C>G (hg19) ; chr8:g.86576299C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576299C>G , CM000670.2:g.86576299C>G	GRCh38
NC_000008.10:g.87588527C>G , CM000670.1:g.87588527C>G	GRCh37
NC_000008.9:g.87657643C>G	NCBI36
NG_016980.1:g.172377G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2104-169G>C MANE Select	ENSP00000316605.5:n.2104-169G>C
ENST00000681546.1:n.1924-169G>C
ENST00000681746.1:c.*515-169G>C	ENSP00000505959.1:n.*515-169G>C
ENST00000320005.5:c.2104-169G>C	ENSP00000316605.5:n.2104-169G>C
ENST00000517327.5:c.276+2390G>C	ENSP00000428329.1:n.276+2390G>C
NM_019098.4:c.2104-169G>C	NP_061971.3:n.2104-169G>C
XM_011517138.1:c.1690-169G>C	XP_011515440.1:n.1690-169G>C
XM_011517138.2:c.1690-169G>C	XP_011515440.1:n.1690-169G>C
NM_019098.5:c.2104-169G>C MANE Select	NP_061971.3:n.2104-169G>C