Canonical Allele Identifier: CA4799726
Community Standard Title: NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575814G>C , CM000670.2:g.86575814G>C GRCh38
NC_000008.10:g.87588042G>C , CM000670.1:g.87588042G>C GRCh37
NC_000008.9:g.87657158G>C NCBI36
NG_016980.1:g.172862C>G

Transcript Alleles

HGVS Amino-acid Change
NM_019098.5:c.2420C>G MANE Select NP_061971.3:p.Ala807Gly
ENST00000320005.6:c.2420C>G MANE Select ENSP00000316605.5:p.Ala807Gly
NM_019098.4:c.2420C>G NP_061971.3:p.Ala807Gly
ENST00000320005.5:c.2420C>G ENSP00000316605.5:p.Ala807Gly
ENST00000517327.5:c.276+2875C>G ENSP00000428329.1:n.276+2875C>G
ENST00000681546.1:n.2240C>G
ENST00000681746.1:c.*831C>G ENSP00000505959.1:n.*831C>G
XM_011517138.1:c.2006C>G XP_011515440.1:p.Ala669Gly
XM_011517138.2:c.2006C>G XP_011515440.1:p.Ala669Gly
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