Canonical Allele Identifier: CA10608732

Gene: CRB1

Linked Data

• ClinVar Variation Id: 294695
• ClinVar RCV Id: RCV000288696 ; RCV000351854 ; RCV000393295
• dbSNP Id: rs147966959
• gnomAD v2: 1-197447402-T-C
• gnomAD v3: 1-197478272-T-C
• gnomAD v4: 1-197478272-T-C
• MyVariant Identifiers: chr1:g.197447402T>C (hg19) ; chr1:g.197478272T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478272T>C , CM000663.2:g.197478272T>C	GRCh38
NC_000001.10:g.197447402T>C , CM000663.1:g.197447402T>C	GRCh37
NC_000001.9:g.195714025T>C	NCBI36
NG_008483.1:g.214995T>C
NG_008483.2:g.281811T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*393T>C MANE Select	ENSP00000356370.3:n.*393T>C
ENST00000367400.7:c.*393T>C	ENSP00000356370.3:n.*393T>C
ENST00000448952.1:c.848T>C	ENSP00000395407.1:n.848T>C
ENST00000484075.5:c.*725T>C	ENSP00000433932.1:n.*725T>C
ENST00000535699.5:c.*393T>C	ENSP00000438786.1:n.*393T>C
ENST00000538660.5:c.*393T>C	ENSP00000438091.1:n.*393T>C
NM_001193640.1:c.*393T>C	NP_001180569.1:n.*393T>C
NM_001257965.1:c.*393T>C	NP_001244894.1:n.*393T>C
NM_001257966.1:c.*393T>C	NP_001244895.1:n.*393T>C
NM_201253.2:c.*393T>C	NP_957705.1:n.*393T>C
NR_047563.1:n.4615T>C
NR_047564.1:n.5065T>C
XM_011509366.1:c.*719T>C	XP_011507668.1:n.*719T>C
XM_011509367.1:c.*593T>C	XP_011507669.1:n.*593T>C
XM_011509368.1:c.*393T>C	XP_011507670.1:n.*393T>C
XM_011509369.1:c.*393T>C	XP_011507671.1:n.*393T>C
XM_011509369.2:c.*393T>C	XP_011507671.1:n.*393T>C
XM_017000851.1:c.*393T>C	XP_016856340.1:n.*393T>C
XM_017000852.1:c.*393T>C	XP_016856341.1:n.*393T>C
NM_201253.3:c.*393T>C MANE Select	NP_957705.1:n.*393T>C
NM_001193640.2:c.*393T>C	NP_001180569.1:n.*393T>C
NM_001257965.2:c.*393T>C	NP_001244894.1:n.*393T>C
NR_047563.2:n.4567T>C
NR_047564.2:n.5017T>C
NM_001257966.2:c.*393T>C	NP_001244895.1:n.*393T>C