Canonical Allele Identifier: CA396064234

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57917346G>C , CM000678.2:g.57917346G>C	GRCh38
NC_000016.9:g.57951250G>C , CM000678.1:g.57951250G>C	GRCh37
NC_000016.8:g.56508751G>C	NCBI36
NG_016351.1:g.58771C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.2088C>G MANE Select	NP_001288.3:p.Tyr696Ter
ENST00000251102.13:c.2088C>G MANE Select	ENSP00000251102.8:p.Tyr696Ter
NM_001286130.1:c.2070C>G	NP_001273059.1:p.Tyr690Ter
NM_001286130.2:c.2070C>G	NP_001273059.1:p.Tyr690Ter
NM_001297.4:c.2088C>G	NP_001288.3:p.Tyr696Ter
ENST00000251102.12:c.2088C>G	ENSP00000251102.8:p.Tyr696Ter
ENST00000564448.5:c.2070C>G	ENSP00000454633.1:p.Tyr690Ter
XM_006721134.2:c.2088C>G	XP_006721197.1:p.Tyr696Ter
XM_011522870.1:c.939C>G	XP_011521172.1:p.Tyr313Ter
XM_011522870.2:c.939C>G	XP_011521172.1:p.Tyr313Ter