Canonical Allele Identifier: CA371444155

Gene: CNGB3

Linked Data

• COSMIC: COSM1755814
• MyVariant Identifiers: chr8:g.87645026A>G (hg19) ; chr8:g.86632798A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632798A>G , CM000670.2:g.86632798A>G	GRCh38
NC_000008.10:g.87645026A>G , CM000670.1:g.87645026A>G	GRCh37
NC_000008.9:g.87714142A>G	NCBI36
NG_016980.1:g.115878T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1274T>C MANE Select	ENSP00000316605.5:p.Leu425Ser
ENST00000681546.1:n.1094T>C
ENST00000681746.1:c.1274T>C	ENSP00000505959.1:p.Leu425Ser
ENST00000320005.5:c.1274T>C	ENSP00000316605.5:p.Leu425Ser
NM_019098.4:c.1274T>C	NP_061971.3:p.Leu425Ser
XM_011517138.1:c.860T>C	XP_011515440.1:p.Leu287Ser
XM_011517138.2:c.860T>C	XP_011515440.1:p.Leu287Ser
NM_019098.5:c.1274T>C MANE Select	NP_061971.3:p.Leu425Ser