Canonical Allele Identifier: CA371446289
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575966A>C , CM000670.2:g.86575966A>C GRCh38
NC_000008.10:g.87588194A>C , CM000670.1:g.87588194A>C GRCh37
NC_000008.9:g.87657310A>C NCBI36
NG_016980.1:g.172710T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2268T>G MANE Select ENSP00000316605.5:p.Cys756Trp
ENST00000681546.1:n.2088T>G
ENST00000681746.1:c.*679T>G ENSP00000505959.1:n.*679T>G
ENST00000320005.5:c.2268T>G ENSP00000316605.5:p.Cys756Trp
ENST00000517327.5:c.276+2723T>G ENSP00000428329.1:n.276+2723T>G
NM_019098.4:c.2268T>G NP_061971.3:p.Cys756Trp
XM_011517138.1:c.1854T>G XP_011515440.1:p.Cys618Trp
XM_011517138.2:c.1854T>G XP_011515440.1:p.Cys618Trp
NM_019098.5:c.2268T>G MANE Select NP_061971.3:p.Cys756Trp