Canonical Allele Identifier: CA371450348

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86671096-G-A
• MyVariant Identifiers: chr8:g.87683324G>A (hg19) ; chr8:g.86671096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671096G>A , CM000670.2:g.86671096G>A	GRCh38
NC_000008.10:g.87683324G>A , CM000670.1:g.87683324G>A	GRCh37
NC_000008.9:g.87752440G>A	NCBI36
NG_016980.1:g.77580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.341C>T MANE Select	ENSP00000316605.5:p.Pro114Leu
ENST00000680314.1:n.102C>T
ENST00000681746.1:c.341C>T	ENSP00000505959.1:p.Pro114Leu
ENST00000320005.5:c.341C>T	ENSP00000316605.5:p.Pro114Leu
NM_019098.4:c.341C>T	NP_061971.3:p.Pro114Leu
XM_011517138.1:c.-74C>T	XP_011515440.1:n.-74C>T
XM_011517138.2:c.-74C>T	XP_011515440.1:n.-74C>T
NM_019098.5:c.341C>T MANE Select	NP_061971.3:p.Pro114Leu