Canonical Allele Identifier: CA461813929

Gene: CNGB3

Linked Data

• dbSNP Id: rs760285737
• gnomAD v3: 8-86632824-A-G
• gnomAD v4: 8-86632824-A-G
• MyVariant Identifiers: chr8:g.87645052A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632824A>G , CM000670.2:g.86632824A>G	GRCh38
NC_000008.10:g.87645052A>G , CM000670.1:g.87645052A>G	GRCh37
NC_000008.9:g.87714168A>G	NCBI36
NG_016980.1:g.115852T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1248T>C MANE Select	ENSP00000316605.5:p.Thr416=
ENST00000681546.1:n.1068T>C
ENST00000681746.1:c.1248T>C	ENSP00000505959.1:p.Thr416=
ENST00000320005.5:c.1248T>C	ENSP00000316605.5:p.Thr416=
NM_019098.4:c.1248T>C	NP_061971.3:p.Thr416=
XM_011517138.1:c.834T>C	XP_011515440.1:p.Thr278=
XM_011517138.2:c.834T>C	XP_011515440.1:p.Thr278=
NM_019098.5:c.1248T>C MANE Select	NP_061971.3:p.Thr416=