Canonical Allele Identifier: CA1799868920
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86633114A= , CM000670.2:g.86633114A= GRCh38
NC_000008.10:g.87645342A= , CM000670.1:g.87645342A= GRCh37
NC_000008.9:g.87714458A= NCBI36
NG_016980.1:g.115562T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1179-221T= MANE Select ENSP00000316605.5:n.1179-221T=
ENST00000681546.1:n.999-221T=
ENST00000681746.1:c.1179-221T= ENSP00000505959.1:n.1179-221T=
ENST00000320005.5:c.1179-221T= ENSP00000316605.5:n.1179-221T=
NM_019098.4:c.1179-221T= NP_061971.3:n.1179-221T=
XM_011517138.1:c.765-221T= XP_011515440.1:n.765-221T=
XM_011517138.2:c.765-221T= XP_011515440.1:n.765-221T=
NM_019098.5:c.1179-221T= MANE Select NP_061971.3:n.1179-221T=