Canonical Allele Identifier: CA2781156497

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671175C>G , CM000670.2:g.86671175C>G	GRCh38
NC_000008.10:g.87683403C>G , CM000670.1:g.87683403C>G	GRCh37
NC_000008.9:g.87752519C>G	NCBI36
NG_016980.1:g.77501G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.339-77G>C MANE Select	ENSP00000316605.5:n.339-77G>C
ENST00000680314.1:n.100-77G>C
ENST00000681746.1:c.339-77G>C	ENSP00000505959.1:n.339-77G>C
ENST00000320005.5:c.339-77G>C	ENSP00000316605.5:n.339-77G>C
NM_019098.4:c.339-77G>C	NP_061971.3:n.339-77G>C
XM_011517138.1:c.-76-77G>C	XP_011515440.1:n.-76-77G>C
XM_011517138.2:c.-76-77G>C	XP_011515440.1:n.-76-77G>C
NM_019098.5:c.339-77G>C MANE Select	NP_061971.3:n.339-77G>C