Canonical Allele Identifier: CA4800092
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs767000862
ExAC: 8:87645046 A / C
gnomAD v2: 8-87645046-A-C
gnomAD v4: 8-86632818-A-C
MyVariant Identifiers: chr8:g.87645046A>C (hg19) chr8:g.86632818A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632818A>C , CM000670.2:g.86632818A>C GRCh38
NC_000008.10:g.87645046A>C , CM000670.1:g.87645046A>C GRCh37
NC_000008.9:g.87714162A>C NCBI36
NG_016980.1:g.115858T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1254T>G MANE Select ENSP00000316605.5:p.Phe418Leu
ENST00000681546.1:n.1074T>G
ENST00000681746.1:c.1254T>G ENSP00000505959.1:p.Phe418Leu
ENST00000320005.5:c.1254T>G ENSP00000316605.5:p.Phe418Leu
NM_019098.4:c.1254T>G NP_061971.3:p.Phe418Leu
XM_011517138.1:c.840T>G XP_011515440.1:p.Phe280Leu
XM_011517138.2:c.840T>G XP_011515440.1:p.Phe280Leu
NM_019098.5:c.1254T>G MANE Select NP_061971.3:p.Phe418Leu
Search 100 bp 5'
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