Canonical Allele Identifier: CA2687823485
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86575605-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575605T>G , CM000670.2:g.86575605T>G GRCh38
NC_000008.10:g.87587833T>G , CM000670.1:g.87587833T>G GRCh37
NC_000008.9:g.87656949T>G NCBI36
NG_016980.1:g.173071A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*199A>C MANE Select ENSP00000316605.5:n.*199A>C
ENST00000681546.1:n.2449A>C
ENST00000681746.1:c.*1040A>C ENSP00000505959.1:n.*1040A>C
ENST00000320005.5:c.*199A>C ENSP00000316605.5:n.*199A>C
ENST00000517327.5:c.276+3084A>C ENSP00000428329.1:n.276+3084A>C
NM_019098.4:c.*199A>C NP_061971.3:n.*199A>C
XM_011517138.1:c.*199A>C XP_011515440.1:n.*199A>C
XM_011517138.2:c.*199A>C XP_011515440.1:n.*199A>C
NM_019098.5:c.*199A>C MANE Select NP_061971.3:n.*199A>C
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