Canonical Allele Identifier: CA371446831

Gene: CNGB3

Linked Data

• dbSNP Id: rs1301193922
• gnomAD v2: 8-87656042-T-G
• gnomAD v4: 8-86643814-T-G
• MyVariant Identifiers: chr8:g.87656042T>G (hg19) ; chr8:g.86643814T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643814T>G , CM000670.2:g.86643814T>G	GRCh38
NC_000008.10:g.87656042T>G , CM000670.1:g.87656042T>G	GRCh37
NC_000008.9:g.87725158T>G	NCBI36
NG_016980.1:g.104862A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1115A>C MANE Select	ENSP00000316605.5:p.Tyr372Ser
ENST00000681546.1:n.935A>C
ENST00000681746.1:c.1115A>C	ENSP00000505959.1:p.Tyr372Ser
ENST00000320005.5:c.1115A>C	ENSP00000316605.5:p.Tyr372Ser
NM_019098.4:c.1115A>C	NP_061971.3:p.Tyr372Ser
XM_011517138.1:c.701A>C	XP_011515440.1:p.Tyr234Ser
XM_011517138.2:c.701A>C	XP_011515440.1:p.Tyr234Ser
NM_019098.5:c.1115A>C MANE Select	NP_061971.3:p.Tyr372Ser