Canonical Allele Identifier: CA396065436

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57919101G>C , CM000678.2:g.57919101G>C	GRCh38
NC_000016.9:g.57953005G>C , CM000678.1:g.57953005G>C	GRCh37
NC_000016.8:g.56510506G>C	NCBI36
NG_016351.1:g.57016C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.1955C>G MANE Select	ENSP00000251102.8:p.Thr652Ser
ENST00000251102.12:c.1955C>G	ENSP00000251102.8:p.Thr652Ser
ENST00000564448.5:c.1937C>G	ENSP00000454633.1:p.Thr646Ser
NM_001286130.1:c.1937C>G	NP_001273059.1:p.Thr646Ser
NM_001297.4:c.1955C>G	NP_001288.3:p.Thr652Ser
XM_006721134.2:c.1955C>G	XP_006721197.1:p.Thr652Ser
XM_011522870.1:c.806C>G	XP_011521172.1:p.Thr269Ser
XR_933629.1:n.85+1559G>C
XM_011522870.2:c.806C>G	XP_011521172.1:p.Thr269Ser
NM_001286130.2:c.1937C>G	NP_001273059.1:p.Thr646Ser
NM_001297.5:c.1955C>G MANE Select	NP_001288.3:p.Thr652Ser