Canonical Allele Identifier: CA371450279
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671063T>C , CM000670.2:g.86671063T>C GRCh38
NC_000008.10:g.87683291T>C , CM000670.1:g.87683291T>C GRCh37
NC_000008.9:g.87752407T>C NCBI36
NG_016980.1:g.77613A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.374A>G MANE Select ENSP00000316605.5:p.Asn125Ser
ENST00000680314.1:n.135A>G
ENST00000681746.1:c.374A>G ENSP00000505959.1:p.Asn125Ser
ENST00000320005.5:c.374A>G ENSP00000316605.5:p.Asn125Ser
NM_019098.4:c.374A>G NP_061971.3:p.Asn125Ser
XM_011517138.1:c.-41A>G XP_011515440.1:n.-41A>G
XM_011517138.2:c.-41A>G XP_011515440.1:n.-41A>G
NM_019098.5:c.374A>G MANE Select NP_061971.3:p.Asn125Ser