Canonical Allele Identifier: CA371455721
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86726563C>A , CM000670.2:g.86726563C>A GRCh38
NC_000008.10:g.87738791C>A , CM000670.1:g.87738791C>A GRCh37
NC_000008.9:g.87807907C>A NCBI36
NG_016980.1:g.22113G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.306G>T MANE Select ENSP00000316605.5:p.Lys102Asn
ENST00000681746.1:c.306G>T ENSP00000505959.1:p.Lys102Asn
ENST00000320005.5:c.306G>T ENSP00000316605.5:p.Lys102Asn
ENST00000519777.1:n.288G>T
NM_019098.4:c.306G>T NP_061971.3:p.Lys102Asn
NM_019098.5:c.306G>T MANE Select NP_061971.3:p.Lys102Asn