Canonical Allele Identifier: CA2687823538
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86575686-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575686T>G , CM000670.2:g.86575686T>G GRCh38
NC_000008.10:g.87587914T>G , CM000670.1:g.87587914T>G GRCh37
NC_000008.9:g.87657030T>G NCBI36
NG_016980.1:g.172990A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*118A>C MANE Select ENSP00000316605.5:n.*118A>C
ENST00000681546.1:n.2368A>C
ENST00000681746.1:c.*959A>C ENSP00000505959.1:n.*959A>C
ENST00000320005.5:c.*118A>C ENSP00000316605.5:n.*118A>C
ENST00000517327.5:c.276+3003A>C ENSP00000428329.1:n.276+3003A>C
NM_019098.4:c.*118A>C NP_061971.3:n.*118A>C
XM_011517138.1:c.*118A>C XP_011515440.1:n.*118A>C
XM_011517138.2:c.*118A>C XP_011515440.1:n.*118A>C
NM_019098.5:c.*118A>C MANE Select NP_061971.3:n.*118A>C
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