Canonical Allele Identifier: CA35896072

Gene: CRB1

Linked Data

• ClinVar Variation Id: 873629
• ClinVar RCV Id: RCV001095947 ; RCV001095948 ; RCV001095946
• dbSNP Id: rs1036503792
• gnomAD v3: 1-197478050-C-G
• gnomAD v4: 1-197478050-C-G
• MyVariant Identifiers: chr1:g.197447180C>G (hg19) ; chr1:g.197478050C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478050C>G , CM000663.2:g.197478050C>G	GRCh38
NC_000001.10:g.197447180C>G , CM000663.1:g.197447180C>G	GRCh37
NC_000001.9:g.195713803C>G	NCBI36
NG_008483.1:g.214773C>G
NG_008483.2:g.281589C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*171C>G MANE Select	ENSP00000356370.3:n.*171C>G
ENST00000367400.7:c.*171C>G	ENSP00000356370.3:n.*171C>G
ENST00000448952.1:c.626C>G	ENSP00000395407.1:n.626C>G
ENST00000484075.5:c.*503C>G	ENSP00000433932.1:n.*503C>G
ENST00000535699.5:c.*171C>G	ENSP00000438786.1:n.*171C>G
ENST00000538660.5:c.*171C>G	ENSP00000438091.1:n.*171C>G
NM_001193640.1:c.*171C>G	NP_001180569.1:n.*171C>G
NM_001257965.1:c.*171C>G	NP_001244894.1:n.*171C>G
NM_001257966.1:c.*171C>G	NP_001244895.1:n.*171C>G
NM_201253.2:c.*171C>G	NP_957705.1:n.*171C>G
NR_047563.1:n.4393C>G
NR_047564.1:n.4843C>G
XM_011509366.1:c.*497C>G	XP_011507668.1:n.*497C>G
XM_011509367.1:c.*371C>G	XP_011507669.1:n.*371C>G
XM_011509368.1:c.*171C>G	XP_011507670.1:n.*171C>G
XM_011509369.1:c.*171C>G	XP_011507671.1:n.*171C>G
XM_011509369.2:c.*171C>G	XP_011507671.1:n.*171C>G
XM_017000851.1:c.*171C>G	XP_016856340.1:n.*171C>G
XM_017000852.1:c.*171C>G	XP_016856341.1:n.*171C>G
NM_201253.3:c.*171C>G MANE Select	NP_957705.1:n.*171C>G
NM_001193640.2:c.*171C>G	NP_001180569.1:n.*171C>G
NM_001257965.2:c.*171C>G	NP_001244894.1:n.*171C>G
NR_047563.2:n.4345C>G
NR_047564.2:n.4795C>G
NM_001257966.2:c.*171C>G	NP_001244895.1:n.*171C>G