Canonical Allele Identifier: CA371448085

Gene: CNGB3

Linked Data

• dbSNP Id: rs570553767
• gnomAD v3: 8-86647809-T-A
• gnomAD v4: 8-86647809-T-A
• MyVariant Identifiers: chr8:g.87660037T>A (hg19) ; chr8:g.86647809T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86647809T>A , CM000670.2:g.86647809T>A	GRCh38
NC_000008.10:g.87660037T>A , CM000670.1:g.87660037T>A	GRCh37
NC_000008.9:g.87729153T>A	NCBI36
NG_016980.1:g.100867A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.982A>T MANE Select	ENSP00000316605.5:p.Met328Leu
ENST00000681546.1:n.802A>T
ENST00000681746.1:c.982A>T	ENSP00000505959.1:p.Met328Leu
ENST00000320005.5:c.982A>T	ENSP00000316605.5:p.Met328Leu
NM_019098.4:c.982A>T	NP_061971.3:p.Met328Leu
XM_011517138.1:c.568A>T	XP_011515440.1:p.Met190Leu
XM_011517138.2:c.568A>T	XP_011515440.1:p.Met190Leu
NM_019098.5:c.982A>T MANE Select	NP_061971.3:p.Met328Leu