Canonical Allele Identifier: CA1799890217
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739741G= , CM000670.2:g.86739741G= GRCh38
NC_000008.10:g.87751969G= , CM000670.1:g.87751969G= GRCh37
NC_000008.9:g.87821085G= NCBI36
NG_016980.1:g.8935C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-5C= MANE Select ENSP00000316605.5:n.130-5C=
ENST00000681746.1:c.130-5C= ENSP00000505959.1:n.130-5C=
ENST00000320005.5:c.130-5C= ENSP00000316605.5:n.130-5C=
ENST00000519777.1:n.112-5C=
NM_019098.4:c.130-5C= NP_061971.3:n.130-5C=
NM_019098.5:c.130-5C= MANE Select NP_061971.3:n.130-5C=