Canonical Allele Identifier: CA8083244

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57919160G>T , CM000678.2:g.57919160G>T	GRCh38
NC_000016.9:g.57953064G>T , CM000678.1:g.57953064G>T	GRCh37
NC_000016.8:g.56510565G>T	NCBI36
NG_016351.1:g.56957C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.1896C>A MANE Select	NP_001288.3:p.Cys632Ter
ENST00000251102.13:c.1896C>A MANE Select	ENSP00000251102.8:p.Cys632Ter
NM_001286130.1:c.1878C>A	NP_001273059.1:p.Cys626Ter
NM_001286130.2:c.1878C>A	NP_001273059.1:p.Cys626Ter
NM_001297.4:c.1896C>A	NP_001288.3:p.Cys632Ter
ENST00000251102.12:c.1896C>A	ENSP00000251102.8:p.Cys632Ter
ENST00000564448.5:c.1878C>A	ENSP00000454633.1:p.Cys626Ter
XM_006721134.2:c.1896C>A	XP_006721197.1:p.Cys632Ter
XM_011522870.1:c.747C>A	XP_011521172.1:p.Cys249Ter
XM_011522870.2:c.747C>A	XP_011521172.1:p.Cys249Ter
XR_933629.1:n.85+1618G>T