Canonical Allele Identifier: CA461831140
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87680350T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668122T>C , CM000670.2:g.86668122T>C GRCh38
NC_000008.10:g.87680350T>C , CM000670.1:g.87680350T>C GRCh37
NC_000008.9:g.87749466T>C NCBI36
NG_016980.1:g.80554A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.540A>G MANE Select ENSP00000316605.5:p.Pro180=
ENST00000681746.1:c.540A>G ENSP00000505959.1:p.Pro180=
ENST00000320005.5:c.540A>G ENSP00000316605.5:p.Pro180=
NM_019098.4:c.540A>G NP_061971.3:p.Pro180=
XM_011517138.1:c.126A>G XP_011515440.1:p.Pro42=
XM_011517138.2:c.126A>G XP_011515440.1:p.Pro42=
NM_019098.5:c.540A>G MANE Select NP_061971.3:p.Pro180=