Canonical Allele Identifier: CA340371
Gene: CNGB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5222
ClinVar RCV Id: RCV000005532
dbSNP Id: rs121918344

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632768G>A , CM000670.2:g.86632768G>A GRCh38
NC_000008.10:g.87644996G>A , CM000670.1:g.87644996G>A GRCh37
NC_000008.9:g.87714112G>A NCBI36
NG_016980.1:g.115908C>T

Transcript Alleles

HGVS Amino-acid change
NM_019098.4:c.1304C>T VV NP_061971.3:p.Ser435Phe
XM_011517138.1:c.890C>T XP_011515440.1:p.Ser297Phe
XM_011517138.2:c.890C>T
ENST00000320005.5:c.1304C>T ENSP00000316605.5:p.Ser435Phe