Canonical Allele Identifier: CA371446973
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86643875-T-A
MyVariant Identifiers: chr8:g.87656103T>A (hg19) chr8:g.86643875T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643875T>A , CM000670.2:g.86643875T>A GRCh38
NC_000008.10:g.87656103T>A , CM000670.1:g.87656103T>A GRCh37
NC_000008.9:g.87725219T>A NCBI36
NG_016980.1:g.104801A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1056-2A>T MANE Select ENSP00000316605.5:n.1056-2A>T
ENST00000681546.1:n.876-2A>T
ENST00000681746.1:c.1056-2A>T ENSP00000505959.1:n.1056-2A>T
ENST00000320005.5:c.1056-2A>T ENSP00000316605.5:n.1056-2A>T
NM_019098.4:c.1056-2A>T NP_061971.3:n.1056-2A>T
XM_011517138.1:c.642-2A>T XP_011515440.1:n.642-2A>T
XM_011517138.2:c.642-2A>T XP_011515440.1:n.642-2A>T
NM_019098.5:c.1056-2A>T MANE Select NP_061971.3:n.1056-2A>T
Search 100 bp 5'
Search 100 bp 3'