Canonical Allele Identifier: CA118792

Gene: CRX

Linked Data

• ClinVar Variation Id: 7422
• ClinVar RCV Id: RCV000007847 ; RCV000086364 ; RCV001244346 ; RCV001074643
• dbSNP Id: rs104894673
• gnomAD v2: 19-48342592-C-T
• gnomAD v3: 19-47839335-C-T
• gnomAD v4: 19-47839335-C-T
• COSMIC: COSM1681166
• MyVariant Identifiers: chr19:g.48342592C>T (hg19) ; chr19:g.47839335C>T (hg38)
• PubMed: PMID:9931337

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47839335C>T , CM000681.2:g.47839335C>T	GRCh38
NC_000019.9:g.48342592C>T , CM000681.1:g.48342592C>T	GRCh37
NC_000019.8:g.53034404C>T	NCBI36
NG_008605.1:g.22494C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221996.12:c.268C>T MANE Select	ENSP00000221996.5:p.Arg90Trp
ENST00000221996.11:c.268C>T	ENSP00000221996.5:p.Arg90Trp
ENST00000539067.5:c.268C>T	ENSP00000445565.1:p.Arg90Trp
ENST00000613299.1:c.116C>T	ENSP00000478106.1:p.Pro39Leu
NM_000554.4:c.268C>T	NP_000545.1:p.Arg90Trp
NM_000554.5:c.268C>T	NP_000545.1:p.Arg90Trp
NM_000554.6:c.268C>T MANE Select	NP_000545.1:p.Arg90Trp