Canonical Allele Identifier: CA270029
Gene: CRX HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.47839964G>C
GRCh37 chr19:g.48343221G>C
Revel Score:
ENST00000221996 (MANE Select) 0.748
ENST00000539067 0.748
gnomAD v2:
19:48343221 G / C
gnomAD v4:
chr19-47839964-G-C
Joint Max Group AF 0.00008835 (EAS)
Exomes Max Group AF 0.00009928 (EAS)
ClinVar RCV:
RCV000132605
RCV003888548
ClinVar Variation:
143086
dbSNP:
527236063
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47839964G>C , CM000681.2:g.47839964G>C GRCh38
NC_000019.9:g.48343221G>C , CM000681.1:g.48343221G>C GRCh37
NC_000019.8:g.53035033G>C NCBI36
NG_008605.1:g.23123G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221996.12:c.897G>C MANE Select ENSP00000221996.5:p.Leu299Phe
ENST00000221996.11:c.897G>C ENSP00000221996.5:p.Leu299Phe
ENST00000539067.5:c.897G>C ENSP00000445565.1:p.Leu299Phe
ENST00000613299.1:c.*619G>C ENSP00000478106.1:n.*619G>C
NM_000554.4:c.897G>C NP_000545.1:p.Leu299Phe
NM_000554.5:c.897G>C NP_000545.1:p.Leu299Phe
NM_000554.6:c.897G>C MANE Select NP_000545.1:p.Leu299Phe
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