Canonical Allele Identifier: CA371446840
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643818A>C , CM000670.2:g.86643818A>C GRCh38
NC_000008.10:g.87656046A>C , CM000670.1:g.87656046A>C GRCh37
NC_000008.9:g.87725162A>C NCBI36
NG_016980.1:g.104858T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1111T>G MANE Select ENSP00000316605.5:p.Tyr371Asp
ENST00000681546.1:n.931T>G
ENST00000681746.1:c.1111T>G ENSP00000505959.1:p.Tyr371Asp
ENST00000320005.5:c.1111T>G ENSP00000316605.5:p.Tyr371Asp
NM_019098.4:c.1111T>G NP_061971.3:p.Tyr371Asp
XM_011517138.1:c.697T>G XP_011515440.1:p.Tyr233Asp
XM_011517138.2:c.697T>G XP_011515440.1:p.Tyr233Asp
NM_019098.5:c.1111T>G MANE Select NP_061971.3:p.Tyr371Asp