Canonical Allele Identifier: CA4799806

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86578666G>C , CM000670.2:g.86578666G>C	GRCh38
NC_000008.10:g.87590894G>C , CM000670.1:g.87590894G>C	GRCh37
NC_000008.9:g.87660010G>C	NCBI36
NG_016980.1:g.170010C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_019098.5:c.2103+23C>G MANE Select	NP_061971.3:n.2103+23C>G
ENST00000320005.6:c.2103+23C>G MANE Select	ENSP00000316605.5:n.2103+23C>G
NM_019098.4:c.2103+23C>G	NP_061971.3:n.2103+23C>G
ENST00000320005.5:c.2103+23C>G	ENSP00000316605.5:n.2103+23C>G
ENST00000517327.5:c.276+23C>G	ENSP00000428329.1:n.276+23C>G
ENST00000681546.1:n.1923+23C>G
ENST00000681746.1:c.*514+23C>G	ENSP00000505959.1:n.*514+23C>G
XM_011517138.1:c.1689+23C>G	XP_011515440.1:n.1689+23C>G
XM_011517138.2:c.1689+23C>G	XP_011515440.1:n.1689+23C>G