Canonical Allele Identifier: CA2687826735
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86671162-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671162T>A , CM000670.2:g.86671162T>A GRCh38
NC_000008.10:g.87683390T>A , CM000670.1:g.87683390T>A GRCh37
NC_000008.9:g.87752506T>A NCBI36
NG_016980.1:g.77514A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.339-64A>T MANE Select ENSP00000316605.5:n.339-64A>T
ENST00000680314.1:n.100-64A>T
ENST00000681746.1:c.339-64A>T ENSP00000505959.1:n.339-64A>T
ENST00000320005.5:c.339-64A>T ENSP00000316605.5:n.339-64A>T
NM_019098.4:c.339-64A>T NP_061971.3:n.339-64A>T
XM_011517138.1:c.-76-64A>T XP_011515440.1:n.-76-64A>T
XM_011517138.2:c.-76-64A>T XP_011515440.1:n.-76-64A>T
NM_019098.5:c.339-64A>T MANE Select NP_061971.3:n.339-64A>T