Canonical Allele Identifier: CA371450218
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87683263G>C (hg19) chr8:g.86671035G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671035G>C , CM000670.2:g.86671035G>C GRCh38
NC_000008.10:g.87683263G>C , CM000670.1:g.87683263G>C GRCh37
NC_000008.9:g.87752379G>C NCBI36
NG_016980.1:g.77641C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.402C>G MANE Select ENSP00000316605.5:p.Asn134Lys
ENST00000680314.1:n.163C>G
ENST00000681746.1:c.402C>G ENSP00000505959.1:p.Asn134Lys
ENST00000320005.5:c.402C>G ENSP00000316605.5:p.Asn134Lys
NM_019098.4:c.402C>G NP_061971.3:p.Asn134Lys
XM_011517138.1:c.-13C>G XP_011515440.1:n.-13C>G
XM_011517138.2:c.-13C>G XP_011515440.1:n.-13C>G
NM_019098.5:c.402C>G MANE Select NP_061971.3:p.Asn134Lys
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