Canonical Allele Identifier: CA422677493

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2929323
• ClinVar RCV Id: RCV003782049
• dbSNP Id: rs1339702153
• gnomAD v2: 1-197446835-C-A
• gnomAD v3: 1-197477705-C-A
• gnomAD v4: 1-197477705-C-A
• MyVariant Identifiers: chr1:g.197446835C>A (hg19) ; chr1:g.197477705C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477705C>A , CM000663.2:g.197477705C>A	GRCh38
NC_000001.10:g.197446835C>A , CM000663.1:g.197446835C>A	GRCh37
NC_000001.9:g.195713458C>A	NCBI36
NG_008483.1:g.214428C>A
NG_008483.2:g.281244C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4047C>A MANE Select	ENSP00000356370.3:p.Gly1349=
ENST00000367399.6:c.3711C>A	ENSP00000356369.2:p.Gly1237=
ENST00000367400.7:c.4047C>A	ENSP00000356370.3:p.Gly1349=
ENST00000448952.1:c.281C>A	ENSP00000395407.1:n.281C>A
ENST00000484075.5:c.*158C>A	ENSP00000433932.1:n.*158C>A
ENST00000535699.5:c.3975C>A	ENSP00000438786.1:p.Gly1325=
ENST00000538660.5:c.2439C>A	ENSP00000438091.1:p.Gly813=
NM_001193640.1:c.3711C>A	NP_001180569.1:p.Gly1237=
NM_001257965.1:c.3975C>A	NP_001244894.1:p.Gly1325=
NM_001257966.1:c.2439C>A	NP_001244895.1:p.Gly813=
NM_201253.2:c.4047C>A	NP_957705.1:p.Gly1349=
NR_047563.1:n.4048C>A
NR_047564.1:n.4498C>A
XM_011509366.1:c.*152C>A	XP_011507668.1:n.*152C>A
XM_011509367.1:c.*26C>A	XP_011507669.1:n.*26C>A
XM_011509368.1:c.3465C>A	XP_011507670.1:p.Gly1155=
XM_011509369.1:c.2490C>A	XP_011507671.1:p.Gly830=
XM_011509369.2:c.2490C>A	XP_011507671.1:p.Gly830=
XM_017000851.1:c.3204C>A	XP_016856340.1:p.Gly1068=
XM_017000852.1:c.4182C>A	XP_016856341.1:p.Gly1394=
NM_201253.3:c.4047C>A MANE Select	NP_957705.1:p.Gly1349=
NM_001193640.2:c.3711C>A	NP_001180569.1:p.Gly1237=
NM_001257965.2:c.3975C>A	NP_001244894.1:p.Gly1325=
NR_047563.2:n.4000C>A
NR_047564.2:n.4450C>A
NM_001257966.2:c.2439C>A	NP_001244895.1:p.Gly813=