Canonical Allele Identifier: CA856371726
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1243875505
MyVariant Identifiers: chr8:g.87645353_87645362del (hg19) chr8:g.86633125_86633134del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86633125_86633134del , CM000670.2:g.86633125_86633134del GRCh38
NC_000008.10:g.87645353_87645362del , CM000670.1:g.87645353_87645362del GRCh37
NC_000008.9:g.87714469_87714478del NCBI36
NG_016980.1:g.115542_115551del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1179-241_1179-232del MANE Select ENSP00000316605.5:n.1179-241_1179-232del
ENST00000681546.1:n.999-241_999-232del
ENST00000681746.1:c.1179-241_1179-232del ENSP00000505959.1:n.1179-241_1179-232del
ENST00000320005.5:c.1179-241_1179-232del ENSP00000316605.5:n.1179-241_1179-232del
NM_019098.4:c.1179-241_1179-232del NP_061971.3:n.1179-241_1179-232del
XM_011517138.1:c.765-241_765-232del XP_011515440.1:n.765-241_765-232del
XM_011517138.2:c.765-241_765-232del XP_011515440.1:n.765-241_765-232del
NM_019098.5:c.1179-241_1179-232del MANE Select NP_061971.3:n.1179-241_1179-232del
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