Canonical Allele Identifier: CA371450149
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671001A>T , CM000670.2:g.86671001A>T GRCh38
NC_000008.10:g.87683229A>T , CM000670.1:g.87683229A>T GRCh37
NC_000008.9:g.87752345A>T NCBI36
NG_016980.1:g.77675T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.436T>A MANE Select ENSP00000316605.5:p.Tyr146Asn
ENST00000680314.1:n.197T>A
ENST00000681746.1:c.436T>A ENSP00000505959.1:p.Tyr146Asn
ENST00000320005.5:c.436T>A ENSP00000316605.5:p.Tyr146Asn
NM_019098.4:c.436T>A NP_061971.3:p.Tyr146Asn
XM_011517138.1:c.22T>A XP_011515440.1:p.Tyr8Asn
XM_011517138.2:c.22T>A XP_011515440.1:p.Tyr8Asn
NM_019098.5:c.436T>A MANE Select NP_061971.3:p.Tyr146Asn