Canonical Allele Identifier: CA1799785143
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576354G= , CM000670.2:g.86576354G= GRCh38
NC_000008.10:g.87588582G= , CM000670.1:g.87588582G= GRCh37
NC_000008.9:g.87657698G= NCBI36
NG_016980.1:g.172322C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2104-224C= MANE Select ENSP00000316605.5:n.2104-224C=
ENST00000681546.1:n.1924-224C=
ENST00000681746.1:c.*515-224C= ENSP00000505959.1:n.*515-224C=
ENST00000320005.5:c.2104-224C= ENSP00000316605.5:n.2104-224C=
ENST00000517327.5:c.276+2335C= ENSP00000428329.1:n.276+2335C=
NM_019098.4:c.2104-224C= NP_061971.3:n.2104-224C=
XM_011517138.1:c.1690-224C= XP_011515440.1:n.1690-224C=
XM_011517138.2:c.1690-224C= XP_011515440.1:n.1690-224C=
NM_019098.5:c.2104-224C= MANE Select NP_061971.3:n.2104-224C=
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