Canonical Allele Identifier: CA396061610

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57887854C>T , CM000678.2:g.57887854C>T	GRCh38
NC_000016.9:g.57921758C>T , CM000678.1:g.57921758C>T	GRCh37
NC_000016.8:g.56479259C>T	NCBI36
NG_016351.1:g.88263G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.3462+1G>A MANE Select	NP_001288.3:n.3462+1G>A
ENST00000251102.13:c.3462+1G>A MANE Select	ENSP00000251102.8:n.3462+1G>A
NM_001286130.1:c.3444+1G>A	NP_001273059.1:n.3444+1G>A
NM_001286130.2:c.3444+1G>A	NP_001273059.1:n.3444+1G>A
NM_001297.4:c.3462+1G>A	NP_001288.3:n.3462+1G>A
ENST00000251102.12:c.3462+1G>A	ENSP00000251102.8:n.3462+1G>A
ENST00000564448.5:c.3444+1G>A	ENSP00000454633.1:n.3444+1G>A
ENST00000565942.1:c.289-3397G>A
XM_006721134.2:c.3462+1G>A	XP_006721197.1:n.3462+1G>A
XM_011522870.1:c.2313+1G>A	XP_011521172.1:n.2313+1G>A
XM_011522870.2:c.2313+1G>A	XP_011521172.1:n.2313+1G>A