Canonical Allele Identifier: CA4799986

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86626027T>C , CM000670.2:g.86626027T>C	GRCh38
NC_000008.10:g.87638255T>C , CM000670.1:g.87638255T>C	GRCh37
NC_000008.9:g.87707371T>C	NCBI36
NG_016980.1:g.122649A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_019098.5:c.1534A>G MANE Select	NP_061971.3:p.Ile512Val
ENST00000320005.6:c.1534A>G MANE Select	ENSP00000316605.5:p.Ile512Val
NM_019098.4:c.1534A>G	NP_061971.3:p.Ile512Val
ENST00000320005.5:c.1534A>G	ENSP00000316605.5:p.Ile512Val
ENST00000681546.1:n.1354A>G
ENST00000681746.1:c.1534A>G	ENSP00000505959.1:p.Ile512Val
XM_011517138.1:c.1120A>G	XP_011515440.1:p.Ile374Val
XM_011517138.2:c.1120A>G	XP_011515440.1:p.Ile374Val
XR_928378.1:n.67-557T>C
XR_928379.1:n.75-557T>C