Canonical Allele Identifier: CA371449707
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87680255G>C (hg19) chr8:g.86668027G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668027G>C , CM000670.2:g.86668027G>C GRCh38
NC_000008.10:g.87680255G>C , CM000670.1:g.87680255G>C GRCh37
NC_000008.9:g.87749371G>C NCBI36
NG_016980.1:g.80649C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.635C>G MANE Select ENSP00000316605.5:p.Ser212Ter
ENST00000681746.1:c.635C>G ENSP00000505959.1:p.Ser212Ter
ENST00000320005.5:c.635C>G ENSP00000316605.5:p.Ser212Ter
NM_019098.4:c.635C>G NP_061971.3:p.Ser212Ter
XM_011517138.1:c.221C>G XP_011515440.1:p.Ser74Ter
XM_011517138.2:c.221C>G XP_011515440.1:p.Ser74Ter
NM_019098.5:c.635C>G MANE Select NP_061971.3:p.Ser212Ter
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