Canonical Allele Identifier: CA2781156447
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670935A>C , CM000670.2:g.86670935A>C GRCh38
NC_000008.10:g.87683163A>C , CM000670.1:g.87683163A>C GRCh37
NC_000008.9:g.87752279A>C NCBI36
NG_016980.1:g.77741T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+9T>G MANE Select ENSP00000316605.5:n.493+9T>G
ENST00000680314.1:n.254+9T>G
ENST00000681746.1:c.493+9T>G ENSP00000505959.1:n.493+9T>G
ENST00000320005.5:c.493+9T>G ENSP00000316605.5:n.493+9T>G
NM_019098.4:c.493+9T>G NP_061971.3:n.493+9T>G
XM_011517138.1:c.79+9T>G XP_011515440.1:n.79+9T>G
XM_011517138.2:c.79+9T>G XP_011515440.1:n.79+9T>G
NM_019098.5:c.493+9T>G MANE Select NP_061971.3:n.493+9T>G