Canonical Allele Identifier: CA371448081

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86647807-C-T
• MyVariant Identifiers: chr8:g.87660035C>T (hg19) ; chr8:g.86647807C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86647807C>T , CM000670.2:g.86647807C>T	GRCh38
NC_000008.10:g.87660035C>T , CM000670.1:g.87660035C>T	GRCh37
NC_000008.9:g.87729151C>T	NCBI36
NG_016980.1:g.100869G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.984G>A MANE Select	ENSP00000316605.5:p.Met328Ile
ENST00000681546.1:n.804G>A
ENST00000681746.1:c.984G>A	ENSP00000505959.1:p.Met328Ile
ENST00000320005.5:c.984G>A	ENSP00000316605.5:p.Met328Ile
NM_019098.4:c.984G>A	NP_061971.3:p.Met328Ile
XM_011517138.1:c.570G>A	XP_011515440.1:p.Met190Ile
XM_011517138.2:c.570G>A	XP_011515440.1:p.Met190Ile
NM_019098.5:c.984G>A MANE Select	NP_061971.3:p.Met328Ile