Canonical Allele Identifier: CA242532

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 195865
• ClinVar RCV Id: RCV000176539 ; RCV000625378 ; RCV001121741 ; RCV001699221 ; RCV003927631
• dbSNP Id: rs374373659
• ExAC: 16:57945788 G / A
• gnomAD v2: 16-57945788-G-A
• gnomAD v3: 16-57911884-G-A
• gnomAD v4: 16-57911884-G-A
• MyVariant Identifiers: chr16:g.57945788G>A (hg19) ; chr16:g.57911884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57911884G>A , CM000678.2:g.57911884G>A	GRCh38
NC_000016.9:g.57945788G>A , CM000678.1:g.57945788G>A	GRCh37
NC_000016.8:g.56503289G>A	NCBI36
NG_016351.1:g.64233C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.2370-9C>T MANE Select	ENSP00000251102.8:n.2370-9C>T
ENST00000251102.12:c.2370-9C>T	ENSP00000251102.8:n.2370-9C>T
ENST00000564448.5:c.2352-9C>T	ENSP00000454633.1:n.2352-9C>T
ENST00000569643.1:n.18C>T
NM_001286130.1:c.2352-9C>T	NP_001273059.1:n.2352-9C>T
NM_001297.4:c.2370-9C>T	NP_001288.3:n.2370-9C>T
XM_006721134.2:c.2370-9C>T	XP_006721197.1:n.2370-9C>T
XM_011522870.1:c.1221-9C>T	XP_011521172.1:n.1221-9C>T
XM_011522870.2:c.1221-9C>T	XP_011521172.1:n.1221-9C>T
NM_001286130.2:c.2352-9C>T	NP_001273059.1:n.2352-9C>T
NM_001297.5:c.2370-9C>T MANE Select	NP_001288.3:n.2370-9C>T