Canonical Allele Identifier: CA1799893188
Community Standard Title: NM_019098.5(CNGB3):c.112C= (p.Gln38=)
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86743516G= , CM000670.2:g.86743516G= GRCh38
NC_000008.10:g.87755744G= , CM000670.1:g.87755744G= GRCh37
NC_000008.9:g.87824860G= NCBI36
NG_016980.1:g.5160C=

Transcript Alleles

HGVS Amino-acid Change
NM_019098.5:c.112C= MANE Select NP_061971.3:p.Gln38=
ENST00000320005.6:c.112C= MANE Select ENSP00000316605.5:p.Gln38=
NM_019098.4:c.112C= NP_061971.3:p.Gln38=
ENST00000320005.5:c.112C= ENSP00000316605.5:p.Gln38=
ENST00000519777.1:n.94C=
ENST00000681746.1:c.112C= ENSP00000505959.1:p.Gln38=