Canonical Allele Identifier: CA2649672972

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477883-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477883C>A , CM000663.2:g.197477883C>A	GRCh38
NC_000001.10:g.197447013C>A , CM000663.1:g.197447013C>A	GRCh37
NC_000001.9:g.195713636C>A	NCBI36
NG_008483.1:g.214606C>A
NG_008483.2:g.281422C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*4C>A MANE Select	ENSP00000356370.3:n.*4C>A
ENST00000367400.7:c.*4C>A	ENSP00000356370.3:n.*4C>A
ENST00000448952.1:c.459C>A	ENSP00000395407.1:n.459C>A
ENST00000484075.5:c.*336C>A	ENSP00000433932.1:n.*336C>A
ENST00000535699.5:c.*4C>A	ENSP00000438786.1:n.*4C>A
ENST00000538660.5:c.*4C>A	ENSP00000438091.1:n.*4C>A
NM_001193640.1:c.*4C>A	NP_001180569.1:n.*4C>A
NM_001257965.1:c.*4C>A	NP_001244894.1:n.*4C>A
NM_001257966.1:c.*4C>A	NP_001244895.1:n.*4C>A
NM_201253.2:c.*4C>A	NP_957705.1:n.*4C>A
NR_047563.1:n.4226C>A
NR_047564.1:n.4676C>A
XM_011509366.1:c.*330C>A	XP_011507668.1:n.*330C>A
XM_011509367.1:c.*204C>A	XP_011507669.1:n.*204C>A
XM_011509368.1:c.*4C>A	XP_011507670.1:n.*4C>A
XM_011509369.1:c.*4C>A	XP_011507671.1:n.*4C>A
XM_011509369.2:c.*4C>A	XP_011507671.1:n.*4C>A
XM_017000851.1:c.*4C>A	XP_016856340.1:n.*4C>A
XM_017000852.1:c.*4C>A	XP_016856341.1:n.*4C>A
NM_201253.3:c.*4C>A MANE Select	NP_957705.1:n.*4C>A
NM_001193640.2:c.*4C>A	NP_001180569.1:n.*4C>A
NM_001257965.2:c.*4C>A	NP_001244894.1:n.*4C>A
NR_047563.2:n.4178C>A
NR_047564.2:n.4628C>A
NM_001257966.2:c.*4C>A	NP_001244895.1:n.*4C>A