Canonical Allele Identifier: CA422677475

Gene: CRB1

Linked Data

• dbSNP Id: rs1413917862
• gnomAD v2: 1-197446823-C-T
• gnomAD v3: 1-197477693-C-T
• gnomAD v4: 1-197477693-C-T
• COSMIC: COSM3864021 ; COSM3864022
• MyVariant Identifiers: chr1:g.197446823C>T (hg19) ; chr1:g.197477693C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477693C>T , CM000663.2:g.197477693C>T	GRCh38
NC_000001.10:g.197446823C>T , CM000663.1:g.197446823C>T	GRCh37
NC_000001.9:g.195713446C>T	NCBI36
NG_008483.1:g.214416C>T
NG_008483.2:g.281232C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4035C>T MANE Select	ENSP00000356370.3:p.Phe1345=
ENST00000367399.6:c.3699C>T	ENSP00000356369.2:p.Phe1233=
ENST00000367400.7:c.4035C>T	ENSP00000356370.3:p.Phe1345=
ENST00000448952.1:c.269C>T	ENSP00000395407.1:n.269C>T
ENST00000484075.5:c.*146C>T	ENSP00000433932.1:n.*146C>T
ENST00000535699.5:c.3963C>T	ENSP00000438786.1:p.Phe1321=
ENST00000538660.5:c.2427C>T	ENSP00000438091.1:p.Phe809=
NM_001193640.1:c.3699C>T	NP_001180569.1:p.Phe1233=
NM_001257965.1:c.3963C>T	NP_001244894.1:p.Phe1321=
NM_001257966.1:c.2427C>T	NP_001244895.1:p.Phe809=
NM_201253.2:c.4035C>T	NP_957705.1:p.Phe1345=
NR_047563.1:n.4036C>T
NR_047564.1:n.4486C>T
XM_011509366.1:c.*140C>T	XP_011507668.1:n.*140C>T
XM_011509367.1:c.*14C>T	XP_011507669.1:n.*14C>T
XM_011509368.1:c.3453C>T	XP_011507670.1:p.Phe1151=
XM_011509369.1:c.2478C>T	XP_011507671.1:p.Phe826=
XM_011509369.2:c.2478C>T	XP_011507671.1:p.Phe826=
XM_017000851.1:c.3192C>T	XP_016856340.1:p.Phe1064=
XM_017000852.1:c.4170C>T	XP_016856341.1:p.Phe1390=
NM_201253.3:c.4035C>T MANE Select	NP_957705.1:p.Phe1345=
NM_001193640.2:c.3699C>T	NP_001180569.1:p.Phe1233=
NM_001257965.2:c.3963C>T	NP_001244894.1:p.Phe1321=
NR_047563.2:n.3988C>T
NR_047564.2:n.4438C>T
NM_001257966.2:c.2427C>T	NP_001244895.1:p.Phe809=