Canonical Allele Identifier: CA371446741
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643773C>A , CM000670.2:g.86643773C>A GRCh38
NC_000008.10:g.87656001C>A , CM000670.1:g.87656001C>A GRCh37
NC_000008.9:g.87725117C>A NCBI36
NG_016980.1:g.104903G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1156G>T MANE Select ENSP00000316605.5:p.Val386Leu
ENST00000681546.1:n.976G>T
ENST00000681746.1:c.1156G>T ENSP00000505959.1:p.Val386Leu
ENST00000320005.5:c.1156G>T ENSP00000316605.5:p.Val386Leu
NM_019098.4:c.1156G>T NP_061971.3:p.Val386Leu
XM_011517138.1:c.742G>T XP_011515440.1:p.Val248Leu
XM_011517138.2:c.742G>T XP_011515440.1:p.Val248Leu
NM_019098.5:c.1156G>T MANE Select NP_061971.3:p.Val386Leu