Canonical Allele Identifier: CA8082497
Gene: CNGB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 320057
ClinVar RCV Id: RCV000307175 RCV001000412 RCV001519711 RCV001699364
dbSNP Id: rs201186180
ExAC: 16:57918240 G / C
gnomAD v2: 16-57918240-G-C
gnomAD v3: 16-57884336-G-C
gnomAD v4: 16-57884336-G-C
MyVariant Identifiers: chr16:g.57918240G>C (hg19) chr16:g.57884336G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57884336G>C , CM000678.2:g.57884336G>C GRCh38
NC_000016.9:g.57918240G>C , CM000678.1:g.57918240G>C GRCh37
NC_000016.8:g.56475741G>C NCBI36
NG_016351.1:g.91781C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251102.13:c.3584C>G MANE Select ENSP00000251102.8:p.Ser1195Cys
ENST00000251102.12:c.3584C>G ENSP00000251102.8:p.Ser1195Cys
ENST00000564448.5:c.3566C>G ENSP00000454633.1:p.Ser1189Cys
NM_001286130.1:c.3566C>G NP_001273059.1:p.Ser1189Cys
NM_001297.4:c.3584C>G NP_001288.3:p.Ser1195Cys
XM_006721134.2:c.3584C>G XP_006721197.1:p.Ser1195Cys
XM_011522870.1:c.2435C>G XP_011521172.1:p.Ser812Cys
XM_011522870.2:c.2435C>G XP_011521172.1:p.Ser812Cys
NM_001286130.2:c.3566C>G NP_001273059.1:p.Ser1189Cys
NM_001297.5:c.3584C>G MANE Select NP_001288.3:p.Ser1195Cys
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