Canonical Allele Identifier: CA371450123
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670990C>A , CM000670.2:g.86670990C>A GRCh38
NC_000008.10:g.87683218C>A , CM000670.1:g.87683218C>A GRCh37
NC_000008.9:g.87752334C>A NCBI36
NG_016980.1:g.77686G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.447G>T MANE Select ENSP00000316605.5:p.Lys149Asn
ENST00000680314.1:n.208G>T
ENST00000681746.1:c.447G>T ENSP00000505959.1:p.Lys149Asn
ENST00000320005.5:c.447G>T ENSP00000316605.5:p.Lys149Asn
NM_019098.4:c.447G>T NP_061971.3:p.Lys149Asn
XM_011517138.1:c.33G>T XP_011515440.1:p.Lys11Asn
XM_011517138.2:c.33G>T XP_011515440.1:p.Lys11Asn
NM_019098.5:c.447G>T MANE Select NP_061971.3:p.Lys149Asn