Canonical Allele Identifier: CA461805517
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87591001G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86578773G>C , CM000670.2:g.86578773G>C GRCh38
NC_000008.10:g.87591001G>C , CM000670.1:g.87591001G>C GRCh37
NC_000008.9:g.87660117G>C NCBI36
NG_016980.1:g.169903C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.2019C>G MANE Select ENSP00000316605.5:p.Pro673=
ENST00000681546.1:n.1839C>G
ENST00000681746.1:c.*430C>G ENSP00000505959.1:n.*430C>G
ENST00000320005.5:c.2019C>G ENSP00000316605.5:p.Pro673=
ENST00000517327.5:c.192C>G ENSP00000428329.1:p.Pro64=
NM_019098.4:c.2019C>G NP_061971.3:p.Pro673=
XM_011517138.1:c.1605C>G XP_011515440.1:p.Pro535=
XM_011517138.2:c.1605C>G XP_011515440.1:p.Pro535=
NM_019098.5:c.2019C>G MANE Select NP_061971.3:p.Pro673=
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