Canonical Allele Identifier: CA461813900

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 2848511
• ClinVar RCV Id: RCV003693282
• MyVariant Identifiers: chr8:g.87645046A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632818A>G , CM000670.2:g.86632818A>G	GRCh38
NC_000008.10:g.87645046A>G , CM000670.1:g.87645046A>G	GRCh37
NC_000008.9:g.87714162A>G	NCBI36
NG_016980.1:g.115858T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1254T>C MANE Select	ENSP00000316605.5:p.Phe418=
ENST00000681546.1:n.1074T>C
ENST00000681746.1:c.1254T>C	ENSP00000505959.1:p.Phe418=
ENST00000320005.5:c.1254T>C	ENSP00000316605.5:p.Phe418=
NM_019098.4:c.1254T>C	NP_061971.3:p.Phe418=
XM_011517138.1:c.840T>C	XP_011515440.1:p.Phe280=
XM_011517138.2:c.840T>C	XP_011515440.1:p.Phe280=
NM_019098.5:c.1254T>C MANE Select	NP_061971.3:p.Phe418=