Canonical Allele Identifier: CA396055902

Gene: CNGB1

Linked Data

• MyVariant Identifiers: chr16:g.57935471G>C (hg19) ; chr16:g.57901567G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57901567G>C , CM000678.2:g.57901567G>C	GRCh38
NC_000016.9:g.57935471G>C , CM000678.1:g.57935471G>C	GRCh37
NC_000016.8:g.56492972G>C	NCBI36
NG_016351.1:g.74550C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.2853C>G MANE Select	ENSP00000251102.8:p.Asp951Glu
ENST00000251102.12:c.2853C>G	ENSP00000251102.8:p.Asp951Glu
ENST00000564448.5:c.2835C>G	ENSP00000454633.1:p.Asp945Glu
ENST00000569643.1:n.510C>G
NM_001286130.1:c.2835C>G	NP_001273059.1:p.Asp945Glu
NM_001297.4:c.2853C>G	NP_001288.3:p.Asp951Glu
XM_006721134.2:c.2853C>G	XP_006721197.1:p.Asp951Glu
XM_011522870.1:c.1704C>G	XP_011521172.1:p.Asp568Glu
XM_011522870.2:c.1704C>G	XP_011521172.1:p.Asp568Glu
NM_001286130.2:c.2835C>G	NP_001273059.1:p.Asp945Glu
NM_001297.5:c.2853C>G MANE Select	NP_001288.3:p.Asp951Glu