Canonical Allele Identifier: CA371446474

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87588274T>C (hg19) ; chr8:g.86576046T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576046T>C , CM000670.2:g.86576046T>C	GRCh38
NC_000008.10:g.87588274T>C , CM000670.1:g.87588274T>C	GRCh37
NC_000008.9:g.87657390T>C	NCBI36
NG_016980.1:g.172630A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2188A>G MANE Select	ENSP00000316605.5:p.Asn730Asp
ENST00000681546.1:n.2008A>G
ENST00000681746.1:c.*599A>G	ENSP00000505959.1:n.*599A>G
ENST00000320005.5:c.2188A>G	ENSP00000316605.5:p.Asn730Asp
ENST00000517327.5:c.276+2643A>G	ENSP00000428329.1:n.276+2643A>G
NM_019098.4:c.2188A>G	NP_061971.3:p.Asn730Asp
XM_011517138.1:c.1774A>G	XP_011515440.1:p.Asn592Asp
XM_011517138.2:c.1774A>G	XP_011515440.1:p.Asn592Asp
NM_019098.5:c.2188A>G MANE Select	NP_061971.3:p.Asn730Asp