Canonical Allele Identifier: CA35896069

Gene: CRB1

Linked Data

• dbSNP Id: rs940851250
• gnomAD v3: 1-197478047-A-G
• gnomAD v4: 1-197478047-A-G
• MyVariant Identifiers: chr1:g.197447177A>G (hg19) ; chr1:g.197478047A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478047A>G , CM000663.2:g.197478047A>G	GRCh38
NC_000001.10:g.197447177A>G , CM000663.1:g.197447177A>G	GRCh37
NC_000001.9:g.195713800A>G	NCBI36
NG_008483.1:g.214770A>G
NG_008483.2:g.281586A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*168A>G MANE Select	ENSP00000356370.3:n.*168A>G
ENST00000367400.7:c.*168A>G	ENSP00000356370.3:n.*168A>G
ENST00000448952.1:c.623A>G	ENSP00000395407.1:n.623A>G
ENST00000484075.5:c.*500A>G	ENSP00000433932.1:n.*500A>G
ENST00000535699.5:c.*168A>G	ENSP00000438786.1:n.*168A>G
ENST00000538660.5:c.*168A>G	ENSP00000438091.1:n.*168A>G
NM_001193640.1:c.*168A>G	NP_001180569.1:n.*168A>G
NM_001257965.1:c.*168A>G	NP_001244894.1:n.*168A>G
NM_001257966.1:c.*168A>G	NP_001244895.1:n.*168A>G
NM_201253.2:c.*168A>G	NP_957705.1:n.*168A>G
NR_047563.1:n.4390A>G
NR_047564.1:n.4840A>G
XM_011509366.1:c.*494A>G	XP_011507668.1:n.*494A>G
XM_011509367.1:c.*368A>G	XP_011507669.1:n.*368A>G
XM_011509368.1:c.*168A>G	XP_011507670.1:n.*168A>G
XM_011509369.1:c.*168A>G	XP_011507671.1:n.*168A>G
XM_011509369.2:c.*168A>G	XP_011507671.1:n.*168A>G
XM_017000851.1:c.*168A>G	XP_016856340.1:n.*168A>G
XM_017000852.1:c.*168A>G	XP_016856341.1:n.*168A>G
NM_201253.3:c.*168A>G MANE Select	NP_957705.1:n.*168A>G
NM_001193640.2:c.*168A>G	NP_001180569.1:n.*168A>G
NM_001257965.2:c.*168A>G	NP_001244894.1:n.*168A>G
NR_047563.2:n.4342A>G
NR_047564.2:n.4792A>G
NM_001257966.2:c.*168A>G	NP_001244895.1:n.*168A>G