Canonical Allele Identifier: CA2687825543
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86647698-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647698T>C , CM000670.2:g.86647698T>C GRCh38
NC_000008.10:g.87659926T>C , CM000670.1:g.87659926T>C GRCh37
NC_000008.9:g.87729042T>C NCBI36
NG_016980.1:g.100978A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.990+103A>G MANE Select ENSP00000316605.5:n.990+103A>G
ENST00000681546.1:n.810+103A>G
ENST00000681746.1:c.990+103A>G ENSP00000505959.1:n.990+103A>G
ENST00000320005.5:c.990+103A>G ENSP00000316605.5:n.990+103A>G
NM_019098.4:c.990+103A>G NP_061971.3:n.990+103A>G
XM_011517138.1:c.576+103A>G XP_011515440.1:n.576+103A>G
XM_011517138.2:c.576+103A>G XP_011515440.1:n.576+103A>G
NM_019098.5:c.990+103A>G MANE Select NP_061971.3:n.990+103A>G
Search 100 bp 5'
Search 100 bp 3'