Canonical Allele Identifier: CA2687824426
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86603996-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86603996C>A , CM000670.2:g.86603996C>A GRCh38
NC_000008.10:g.87616224C>A , CM000670.1:g.87616224C>A GRCh37
NC_000008.9:g.87685340C>A NCBI36
NG_016980.1:g.144680G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1781+97G>T MANE Select ENSP00000316605.5:n.1781+97G>T
ENST00000681546.1:n.1601+97G>T
ENST00000681746.1:c.*192+97G>T ENSP00000505959.1:n.*192+97G>T
ENST00000320005.5:c.1781+97G>T ENSP00000316605.5:n.1781+97G>T
NM_019098.4:c.1781+97G>T NP_061971.3:n.1781+97G>T
XM_011517138.1:c.1367+97G>T XP_011515440.1:n.1367+97G>T
XM_011517138.2:c.1367+97G>T XP_011515440.1:n.1367+97G>T
NM_019098.5:c.1781+97G>T MANE Select NP_061971.3:n.1781+97G>T
Search 100 bp 5'
Search 100 bp 3'