Canonical Allele Identifier: CA228011

Gene: CRB1

Linked Data

• ClinVar Variation Id: 99881
• ClinVar RCV Id: RCV000086321
• dbSNP Id: rs62636289
• gnomAD v4: 1-197427834-G-C
• MyVariant Identifiers: chr1:g.197396964G>C (hg19) ; chr1:g.197427834G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427834G>C , CM000663.2:g.197427834G>C	GRCh38
NC_000001.10:g.197396964G>C , CM000663.1:g.197396964G>C	GRCh37
NC_000001.9:g.195663587G>C	NCBI36
NG_008483.1:g.164557G>C
NG_008483.2:g.231373G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.2509G>C MANE Select	ENSP00000356370.3:p.Asp837His
ENST00000638467.1:c.2509G>C	ENSP00000491102.1:p.Asp837His
ENST00000681519.1:c.1390G>C	ENSP00000505267.1:p.Asp464His
ENST00000367397.1:c.652G>C	ENSP00000356367.1:p.Asp218His
ENST00000367399.6:c.2173G>C	ENSP00000356369.2:p.Asp725His
ENST00000367400.7:c.2509G>C	ENSP00000356370.3:p.Asp837His
ENST00000480086.2:n.410G>C
ENST00000484075.5:c.2509G>C	ENSP00000433932.1:p.Asp837His
ENST00000535699.5:c.2302G>C	ENSP00000438786.1:p.Asp768His
ENST00000538660.5:c.2128+5878G>C	ENSP00000438091.1:n.2128+5878G>C
NM_001193640.1:c.2173G>C	NP_001180569.1:p.Asp725His
NM_001257965.1:c.2302G>C	NP_001244894.1:p.Asp768His
NM_001257966.1:c.2128+5878G>C	NP_001244895.1:n.2128+5878G>C
NM_201253.2:c.2509G>C	NP_957705.1:p.Asp837His
NR_047563.1:n.2510G>C
NR_047564.1:n.2718G>C
XM_011509365.1:c.2509G>C	XP_011507667.1:p.Asp837His
XM_011509366.1:c.2509G>C	XP_011507668.1:p.Asp837His
XM_011509367.1:c.2509G>C	XP_011507669.1:p.Asp837His
XM_011509368.1:c.1927G>C	XP_011507670.1:p.Asp643His
XM_011509369.1:c.952G>C	XP_011507671.1:p.Asp318His
XM_011509365.2:c.2509G>C	XP_011507667.1:p.Asp837His
XM_011509369.2:c.952G>C	XP_011507671.1:p.Asp318His
XM_017000851.1:c.1666G>C	XP_016856340.1:p.Asp556His
XM_017000852.1:c.2509G>C	XP_016856341.1:p.Asp837His
NM_201253.3:c.2509G>C MANE Select	NP_957705.1:p.Asp837His
NM_001193640.2:c.2173G>C	NP_001180569.1:p.Asp725His
NM_001257965.2:c.2302G>C	NP_001244894.1:p.Asp768His
NR_047563.2:n.2462G>C
NR_047564.2:n.2670G>C
NM_001257966.2:c.2128+5878G>C	NP_001244895.1:n.2128+5878G>C