Canonical Allele Identifier: CA371444256

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87645049T>A (hg19) ; chr8:g.86632821T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632821T>A , CM000670.2:g.86632821T>A	GRCh38
NC_000008.10:g.87645049T>A , CM000670.1:g.87645049T>A	GRCh37
NC_000008.9:g.87714165T>A	NCBI36
NG_016980.1:g.115855A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1251A>T MANE Select	ENSP00000316605.5:p.Leu417Phe
ENST00000681546.1:n.1071A>T
ENST00000681746.1:c.1251A>T	ENSP00000505959.1:p.Leu417Phe
ENST00000320005.5:c.1251A>T	ENSP00000316605.5:p.Leu417Phe
NM_019098.4:c.1251A>T	NP_061971.3:p.Leu417Phe
XM_011517138.1:c.837A>T	XP_011515440.1:p.Leu279Phe
XM_011517138.2:c.837A>T	XP_011515440.1:p.Leu279Phe
NM_019098.5:c.1251A>T MANE Select	NP_061971.3:p.Leu417Phe