Canonical Allele Identifier: CA4799753

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 363867
• ClinVar RCV Id: RCV000261883 ; RCV000356702 ; RCV001034257
• dbSNP Id: rs78239264
• ExAC: 8:87588154 C / A
• gnomAD v2: 8-87588154-C-A
• gnomAD v3: 8-86575926-C-A
• gnomAD v4: 8-86575926-C-A
• MyVariant Identifiers: chr8:g.87588154C>A (hg19) ; chr8:g.86575926C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575926C>A , CM000670.2:g.86575926C>A	GRCh38
NC_000008.10:g.87588154C>A , CM000670.1:g.87588154C>A	GRCh37
NC_000008.9:g.87657270C>A	NCBI36
NG_016980.1:g.172750G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2308G>T MANE Select	ENSP00000316605.5:p.Val770Phe
ENST00000681546.1:n.2128G>T
ENST00000681746.1:c.*719G>T	ENSP00000505959.1:n.*719G>T
ENST00000320005.5:c.2308G>T	ENSP00000316605.5:p.Val770Phe
ENST00000517327.5:c.276+2763G>T	ENSP00000428329.1:n.276+2763G>T
NM_019098.4:c.2308G>T	NP_061971.3:p.Val770Phe
XM_011517138.1:c.1894G>T	XP_011515440.1:p.Val632Phe
XM_011517138.2:c.1894G>T	XP_011515440.1:p.Val632Phe
NM_019098.5:c.2308G>T MANE Select	NP_061971.3:p.Val770Phe