Canonical Allele Identifier: CA26870533
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94080559A>G
GRCh37 chr1:g.94546115A>G
Revel Score:
ENST00000370225 (MANE Select) 0.870
ENST00000535735 0.870
gnomAD v4:
chr1-94080559-A-G
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV000505087
RCV000658516
ClinVar Variation:
438086
dbSNP:
61748548
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94080559A>G , CM000663.2:g.94080559A>G GRCh38
NC_000001.10:g.94546115A>G , CM000663.1:g.94546115A>G GRCh37
NC_000001.9:g.94318703A>G NCBI36
NG_009073.1:g.45591T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1018T>C MANE Select ENSP00000359245.3:p.Tyr340His
ENST00000649773.1:c.1018T>C ENSP00000496882.1:p.Tyr340His
ENST00000370225.3:c.1018T>C ENSP00000359245.3:p.Tyr340His
NM_000350.2:c.1018T>C NP_000341.2:p.Tyr340His
NM_000350.3:c.1018T>C MANE Select NP_000341.2:p.Tyr340His
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