Canonical Allele Identifier: CA461815831
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87656047A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643819A>C , CM000670.2:g.86643819A>C GRCh38
NC_000008.10:g.87656047A>C , CM000670.1:g.87656047A>C GRCh37
NC_000008.9:g.87725163A>C NCBI36
NG_016980.1:g.104857T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1110T>G MANE Select ENSP00000316605.5:p.Val370=
ENST00000681546.1:n.930T>G
ENST00000681746.1:c.1110T>G ENSP00000505959.1:p.Val370=
ENST00000320005.5:c.1110T>G ENSP00000316605.5:p.Val370=
NM_019098.4:c.1110T>G NP_061971.3:p.Val370=
XM_011517138.1:c.696T>G XP_011515440.1:p.Val232=
XM_011517138.2:c.696T>G XP_011515440.1:p.Val232=
NM_019098.5:c.1110T>G MANE Select NP_061971.3:p.Val370=
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