Canonical Allele Identifier: CA2579200215

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739621T>A , CM000670.2:g.86739621T>A	GRCh38
NC_000008.10:g.87751849T>A , CM000670.1:g.87751849T>A	GRCh37
NC_000008.9:g.87820965T>A	NCBI36
NG_016980.1:g.9055A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.211+34A>T MANE Select	ENSP00000316605.5:n.211+34A>T
ENST00000681746.1:c.211+34A>T	ENSP00000505959.1:n.211+34A>T
ENST00000320005.5:c.211+34A>T	ENSP00000316605.5:n.211+34A>T
ENST00000519777.1:n.193+34A>T
NM_019098.4:c.211+34A>T	NP_061971.3:n.211+34A>T
NM_019098.5:c.211+34A>T MANE Select	NP_061971.3:n.211+34A>T