Canonical Allele Identifier: CA371444266

Gene: CNGB3

Linked Data

• COSMIC: COSM239364
• MyVariant Identifiers: chr8:g.87645050A>G (hg19) ; chr8:g.86632822A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632822A>G , CM000670.2:g.86632822A>G	GRCh38
NC_000008.10:g.87645050A>G , CM000670.1:g.87645050A>G	GRCh37
NC_000008.9:g.87714166A>G	NCBI36
NG_016980.1:g.115854T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1250T>C MANE Select	ENSP00000316605.5:p.Leu417Ser
ENST00000681546.1:n.1070T>C
ENST00000681746.1:c.1250T>C	ENSP00000505959.1:p.Leu417Ser
ENST00000320005.5:c.1250T>C	ENSP00000316605.5:p.Leu417Ser
NM_019098.4:c.1250T>C	NP_061971.3:p.Leu417Ser
XM_011517138.1:c.836T>C	XP_011515440.1:p.Leu279Ser
XM_011517138.2:c.836T>C	XP_011515440.1:p.Leu279Ser
NM_019098.5:c.1250T>C MANE Select	NP_061971.3:p.Leu417Ser