Canonical Allele Identifier: CA371446706

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87655983T>C (hg19) ; chr8:g.86643755T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643755T>C , CM000670.2:g.86643755T>C	GRCh38
NC_000008.10:g.87655983T>C , CM000670.1:g.87655983T>C	GRCh37
NC_000008.9:g.87725099T>C	NCBI36
NG_016980.1:g.104921A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1174A>G MANE Select	ENSP00000316605.5:p.Asn392Asp
ENST00000681546.1:n.994A>G
ENST00000681746.1:c.1174A>G	ENSP00000505959.1:p.Asn392Asp
ENST00000320005.5:c.1174A>G	ENSP00000316605.5:p.Asn392Asp
NM_019098.4:c.1174A>G	NP_061971.3:p.Asn392Asp
XM_011517138.1:c.760A>G	XP_011515440.1:p.Asn254Asp
XM_011517138.2:c.760A>G	XP_011515440.1:p.Asn254Asp
NM_019098.5:c.1174A>G MANE Select	NP_061971.3:p.Asn392Asp