Canonical Allele Identifier: CA462114133
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87588122A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575894A>C , CM000670.2:g.86575894A>C GRCh38
NC_000008.10:g.87588122A>C , CM000670.1:g.87588122A>C GRCh37
NC_000008.9:g.87657238A>C NCBI36
NG_016980.1:g.172782T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2340T>G MANE Select ENSP00000316605.5:p.Ser780=
ENST00000681546.1:n.2160T>G
ENST00000681746.1:c.*751T>G ENSP00000505959.1:n.*751T>G
ENST00000320005.5:c.2340T>G ENSP00000316605.5:p.Ser780=
ENST00000517327.5:c.276+2795T>G ENSP00000428329.1:n.276+2795T>G
NM_019098.4:c.2340T>G NP_061971.3:p.Ser780=
XM_011517138.1:c.1926T>G XP_011515440.1:p.Ser642=
XM_011517138.2:c.1926T>G XP_011515440.1:p.Ser642=
NM_019098.5:c.2340T>G MANE Select NP_061971.3:p.Ser780=
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