Canonical Allele Identifier: CA1799784804
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576081T= , CM000670.2:g.86576081T= GRCh38
NC_000008.10:g.87588309T= , CM000670.1:g.87588309T= GRCh37
NC_000008.9:g.87657425T= NCBI36
NG_016980.1:g.172595A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2153A= MANE Select ENSP00000316605.5:p.Asp718=
ENST00000681546.1:n.1973A=
ENST00000681746.1:c.*564A= ENSP00000505959.1:n.*564A=
ENST00000320005.5:c.2153A= ENSP00000316605.5:p.Asp718=
ENST00000517327.5:c.276+2608A= ENSP00000428329.1:n.276+2608A=
NM_019098.4:c.2153A= NP_061971.3:p.Asp718=
XM_011517138.1:c.1739A= XP_011515440.1:p.Asp580=
XM_011517138.2:c.1739A= XP_011515440.1:p.Asp580=
NM_019098.5:c.2153A= MANE Select NP_061971.3:p.Asp718=