Canonical Allele Identifier: CA371450220
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87683264T>G (hg19) chr8:g.86671036T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671036T>G , CM000670.2:g.86671036T>G GRCh38
NC_000008.10:g.87683264T>G , CM000670.1:g.87683264T>G GRCh37
NC_000008.9:g.87752380T>G NCBI36
NG_016980.1:g.77640A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.401A>C MANE Select ENSP00000316605.5:p.Asn134Thr
ENST00000680314.1:n.162A>C
ENST00000681746.1:c.401A>C ENSP00000505959.1:p.Asn134Thr
ENST00000320005.5:c.401A>C ENSP00000316605.5:p.Asn134Thr
NM_019098.4:c.401A>C NP_061971.3:p.Asn134Thr
XM_011517138.1:c.-14A>C XP_011515440.1:n.-14A>C
XM_011517138.2:c.-14A>C XP_011515440.1:n.-14A>C
NM_019098.5:c.401A>C MANE Select NP_061971.3:p.Asn134Thr
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