Canonical Allele Identifier: CA10608728

Gene: CRB1

Linked Data

• ClinVar Variation Id: 294693
• ClinVar RCV Id: RCV000282692 ; RCV000317890 ; RCV000374587
• dbSNP Id: rs886045789
• gnomAD v3: 1-197478037-G-T
• gnomAD v4: 1-197478037-G-T
• MyVariant Identifiers: chr1:g.197447167G>T (hg19) ; chr1:g.197478037G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478037G>T , CM000663.2:g.197478037G>T	GRCh38
NC_000001.10:g.197447167G>T , CM000663.1:g.197447167G>T	GRCh37
NC_000001.9:g.195713790G>T	NCBI36
NG_008483.1:g.214760G>T
NG_008483.2:g.281576G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*158G>T MANE Select	ENSP00000356370.3:n.*158G>T
ENST00000367400.7:c.*158G>T	ENSP00000356370.3:n.*158G>T
ENST00000448952.1:c.613G>T	ENSP00000395407.1:n.613G>T
ENST00000484075.5:c.*490G>T	ENSP00000433932.1:n.*490G>T
ENST00000535699.5:c.*158G>T	ENSP00000438786.1:n.*158G>T
ENST00000538660.5:c.*158G>T	ENSP00000438091.1:n.*158G>T
NM_001193640.1:c.*158G>T	NP_001180569.1:n.*158G>T
NM_001257965.1:c.*158G>T	NP_001244894.1:n.*158G>T
NM_001257966.1:c.*158G>T	NP_001244895.1:n.*158G>T
NM_201253.2:c.*158G>T	NP_957705.1:n.*158G>T
NR_047563.1:n.4380G>T
NR_047564.1:n.4830G>T
XM_011509366.1:c.*484G>T	XP_011507668.1:n.*484G>T
XM_011509367.1:c.*358G>T	XP_011507669.1:n.*358G>T
XM_011509368.1:c.*158G>T	XP_011507670.1:n.*158G>T
XM_011509369.1:c.*158G>T	XP_011507671.1:n.*158G>T
XM_011509369.2:c.*158G>T	XP_011507671.1:n.*158G>T
XM_017000851.1:c.*158G>T	XP_016856340.1:n.*158G>T
XM_017000852.1:c.*158G>T	XP_016856341.1:n.*158G>T
NM_201253.3:c.*158G>T MANE Select	NP_957705.1:n.*158G>T
NM_001193640.2:c.*158G>T	NP_001180569.1:n.*158G>T
NM_001257965.2:c.*158G>T	NP_001244894.1:n.*158G>T
NR_047563.2:n.4332G>T
NR_047564.2:n.4782G>T
NM_001257966.2:c.*158G>T	NP_001244895.1:n.*158G>T