Canonical Allele Identifier: CA371450337
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671091T>G , CM000670.2:g.86671091T>G GRCh38
NC_000008.10:g.87683319T>G , CM000670.1:g.87683319T>G GRCh37
NC_000008.9:g.87752435T>G NCBI36
NG_016980.1:g.77585A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.346A>C MANE Select ENSP00000316605.5:p.Asn116His
ENST00000680314.1:n.107A>C
ENST00000681746.1:c.346A>C ENSP00000505959.1:p.Asn116His
ENST00000320005.5:c.346A>C ENSP00000316605.5:p.Asn116His
NM_019098.4:c.346A>C NP_061971.3:p.Asn116His
XM_011517138.1:c.-69A>C XP_011515440.1:n.-69A>C
XM_011517138.2:c.-69A>C XP_011515440.1:n.-69A>C
NM_019098.5:c.346A>C MANE Select NP_061971.3:p.Asn116His