Canonical Allele Identifier: CA8083493

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57939585C>T , CM000678.2:g.57939585C>T	GRCh38
NC_000016.9:g.57973489C>T , CM000678.1:g.57973489C>T	GRCh37
NC_000016.8:g.56530990C>T	NCBI36
NG_016351.1:g.36532G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.1217G>A MANE Select	NP_001288.3:p.Trp406Ter
ENST00000251102.13:c.1217G>A MANE Select	ENSP00000251102.8:p.Trp406Ter
NM_001286130.1:c.1199G>A	NP_001273059.1:p.Trp400Ter
NM_001286130.2:c.1199G>A	NP_001273059.1:p.Trp400Ter
NM_001297.4:c.1217G>A	NP_001288.3:p.Trp406Ter
ENST00000251102.12:c.1217G>A	ENSP00000251102.8:p.Trp406Ter
ENST00000564448.5:c.1199G>A	ENSP00000454633.1:p.Trp400Ter
ENST00000564654.1:n.338G>A
XM_006721134.2:c.1217G>A	XP_006721197.1:p.Trp406Ter
XM_011522870.1:c.-201G>A	XP_011521172.1:n.-201G>A
XM_011522870.2:c.-201G>A	XP_011521172.1:n.-201G>A