Canonical Allele Identifier: CA461813830

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87645028G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632800G>A , CM000670.2:g.86632800G>A	GRCh38
NC_000008.10:g.87645028G>A , CM000670.1:g.87645028G>A	GRCh37
NC_000008.9:g.87714144G>A	NCBI36
NG_016980.1:g.115876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1272C>T MANE Select	ENSP00000316605.5:p.Leu424=
ENST00000681546.1:n.1092C>T
ENST00000681746.1:c.1272C>T	ENSP00000505959.1:p.Leu424=
ENST00000320005.5:c.1272C>T	ENSP00000316605.5:p.Leu424=
NM_019098.4:c.1272C>T	NP_061971.3:p.Leu424=
XM_011517138.1:c.858C>T	XP_011515440.1:p.Leu286=
XM_011517138.2:c.858C>T	XP_011515440.1:p.Leu286=
NM_019098.5:c.1272C>T MANE Select	NP_061971.3:p.Leu424=