Canonical Allele Identifier: CA1312537

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1462803
• ClinVar RCV Id: RCV001968653
• dbSNP Id: rs771181041
• ExAC: 1:197446815 G / A
• gnomAD v2: 1-197446815-G-A
• gnomAD v3: 1-197477685-G-A
• gnomAD v4: 1-197477685-G-A
• COSMIC: COSM4135898 ; COSM4135899
• MyVariant Identifiers: chr1:g.197446815G>A (hg19) ; chr1:g.197477685G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477685G>A , CM000663.2:g.197477685G>A	GRCh38
NC_000001.10:g.197446815G>A , CM000663.1:g.197446815G>A	GRCh37
NC_000001.9:g.195713438G>A	NCBI36
NG_008483.1:g.214408G>A
NG_008483.2:g.281224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4027G>A MANE Select	ENSP00000356370.3:p.Asp1343Asn
ENST00000367399.6:c.3691G>A	ENSP00000356369.2:p.Asp1231Asn
ENST00000367400.7:c.4027G>A	ENSP00000356370.3:p.Asp1343Asn
ENST00000448952.1:c.261G>A	ENSP00000395407.1:n.261G>A
ENST00000484075.5:c.*138G>A	ENSP00000433932.1:n.*138G>A
ENST00000535699.5:c.3955G>A	ENSP00000438786.1:p.Asp1319Asn
ENST00000538660.5:c.2419G>A	ENSP00000438091.1:p.Asp807Asn
NM_001193640.1:c.3691G>A	NP_001180569.1:p.Asp1231Asn
NM_001257965.1:c.3955G>A	NP_001244894.1:p.Asp1319Asn
NM_001257966.1:c.2419G>A	NP_001244895.1:p.Asp807Asn
NM_201253.2:c.4027G>A	NP_957705.1:p.Asp1343Asn
NR_047563.1:n.4028G>A
NR_047564.1:n.4478G>A
XM_011509366.1:c.*132G>A	XP_011507668.1:n.*132G>A
XM_011509367.1:c.*6G>A	XP_011507669.1:n.*6G>A
XM_011509368.1:c.3445G>A	XP_011507670.1:p.Asp1149Asn
XM_011509369.1:c.2470G>A	XP_011507671.1:p.Asp824Asn
XM_011509369.2:c.2470G>A	XP_011507671.1:p.Asp824Asn
XM_017000851.1:c.3184G>A	XP_016856340.1:p.Asp1062Asn
XM_017000852.1:c.4162G>A	XP_016856341.1:p.Asp1388Asn
NM_201253.3:c.4027G>A MANE Select	NP_957705.1:p.Asp1343Asn
NM_001193640.2:c.3691G>A	NP_001180569.1:p.Asp1231Asn
NM_001257965.2:c.3955G>A	NP_001244894.1:p.Asp1319Asn
NR_047563.2:n.3980G>A
NR_047564.2:n.4430G>A
NM_001257966.2:c.2419G>A	NP_001244895.1:p.Asp807Asn