Canonical Allele Identifier: CA344037086

Gene: CRB1

Linked Data

• ClinVar Variation Id: 471782
• ClinVar RCV Id: RCV000553580
• dbSNP Id: rs1294237377
• MyVariant Identifiers: chr1:g.197396835C>A (hg19) ; chr1:g.197427705C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427705C>A , CM000663.2:g.197427705C>A	GRCh38
NC_000001.10:g.197396835C>A , CM000663.1:g.197396835C>A	GRCh37
NC_000001.9:g.195663458C>A	NCBI36
NG_008483.1:g.164428C>A
NG_008483.2:g.231244C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2380C>A MANE Select	ENSP00000356370.3:p.His794Asn
ENST00000638467.1:c.2380C>A	ENSP00000491102.1:p.His794Asn
ENST00000681519.1:c.1261C>A	ENSP00000505267.1:p.His421Asn
ENST00000367397.1:c.523C>A	ENSP00000356367.1:p.His175Asn
ENST00000367399.6:c.2044C>A	ENSP00000356369.2:p.His682Asn
ENST00000367400.7:c.2380C>A	ENSP00000356370.3:p.His794Asn
ENST00000480086.2:n.281C>A
ENST00000484075.5:c.2380C>A	ENSP00000433932.1:p.His794Asn
ENST00000535699.5:c.2173C>A	ENSP00000438786.1:p.His725Asn
ENST00000538660.5:c.2128+5749C>A	ENSP00000438091.1:n.2128+5749C>A
NM_001193640.1:c.2044C>A	NP_001180569.1:p.His682Asn
NM_001257965.1:c.2173C>A	NP_001244894.1:p.His725Asn
NM_001257966.1:c.2128+5749C>A	NP_001244895.1:n.2128+5749C>A
NM_201253.2:c.2380C>A	NP_957705.1:p.His794Asn
NR_047563.1:n.2381C>A
NR_047564.1:n.2589C>A
XM_011509365.1:c.2380C>A	XP_011507667.1:p.His794Asn
XM_011509366.1:c.2380C>A	XP_011507668.1:p.His794Asn
XM_011509367.1:c.2380C>A	XP_011507669.1:p.His794Asn
XM_011509368.1:c.1798C>A	XP_011507670.1:p.His600Asn
XM_011509369.1:c.823C>A	XP_011507671.1:p.His275Asn
XM_011509365.2:c.2380C>A	XP_011507667.1:p.His794Asn
XM_011509369.2:c.823C>A	XP_011507671.1:p.His275Asn
XM_017000851.1:c.1537C>A	XP_016856340.1:p.His513Asn
XM_017000852.1:c.2380C>A	XP_016856341.1:p.His794Asn
NM_201253.3:c.2380C>A MANE Select	NP_957705.1:p.His794Asn
NM_001193640.2:c.2044C>A	NP_001180569.1:p.His682Asn
NM_001257965.2:c.2173C>A	NP_001244894.1:p.His725Asn
NR_047563.2:n.2333C>A
NR_047564.2:n.2541C>A
NM_001257966.2:c.2128+5749C>A	NP_001244895.1:n.2128+5749C>A