Canonical Allele Identifier: CA2576013665
Gene: CNGB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57964076G>C , CM000678.2:g.57964076G>C GRCh38
NC_000016.9:g.57997980G>C , CM000678.1:g.57997980G>C GRCh37
NC_000016.8:g.56555481G>C NCBI36
NG_016351.1:g.12041C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000251102.13:c.290+54C>G MANE Select ENSP00000251102.8:n.290+54C>G
ENST00000251102.12:c.290+54C>G ENSP00000251102.8:n.290+54C>G
ENST00000311183.8:c.290+54C>G ENSP00000311670.4:n.290+54C>G
ENST00000562761.1:c.290+54C>G ENSP00000455708.1:n.290+54C>G
ENST00000564448.5:c.290+54C>G ENSP00000454633.1:n.290+54C>G
ENST00000567568.1:n.402C>G
NM_001135639.1:c.290+54C>G NP_001129111.1:n.290+54C>G
NM_001286130.1:c.290+54C>G NP_001273059.1:n.290+54C>G
NM_001297.4:c.290+54C>G NP_001288.3:n.290+54C>G
XM_006721134.2:c.290+54C>G XP_006721197.1:n.290+54C>G
NM_001135639.2:c.290+54C>G NP_001129111.1:n.290+54C>G
NM_001286130.2:c.290+54C>G NP_001273059.1:n.290+54C>G
NM_001297.5:c.290+54C>G MANE Select NP_001288.3:n.290+54C>G