Canonical Allele Identifier: CA371446777

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87656018A>C (hg19) ; chr8:g.86643790A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643790A>C , CM000670.2:g.86643790A>C	GRCh38
NC_000008.10:g.87656018A>C , CM000670.1:g.87656018A>C	GRCh37
NC_000008.9:g.87725134A>C	NCBI36
NG_016980.1:g.104886T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1139T>G MANE Select	ENSP00000316605.5:p.Ile380Ser
ENST00000681546.1:n.959T>G
ENST00000681746.1:c.1139T>G	ENSP00000505959.1:p.Ile380Ser
ENST00000320005.5:c.1139T>G	ENSP00000316605.5:p.Ile380Ser
NM_019098.4:c.1139T>G	NP_061971.3:p.Ile380Ser
XM_011517138.1:c.725T>G	XP_011515440.1:p.Ile242Ser
XM_011517138.2:c.725T>G	XP_011515440.1:p.Ile242Ser
NM_019098.5:c.1139T>G MANE Select	NP_061971.3:p.Ile380Ser