Canonical Allele Identifier: CA16617206
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94041342A>G
GRCh37 chr1:g.94506898A>G
Revel Score:
ENST00000370225 (MANE Select) 0.859
gnomAD v3:
1:94041342 A / G
gnomAD v4:
chr1-94041342-A-G
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV000485764
ClinVar Variation:
417988
dbSNP:
1064793010
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041342A>G , CM000663.2:g.94041342A>G GRCh38
NC_000001.10:g.94506898A>G , CM000663.1:g.94506898A>G GRCh37
NC_000001.9:g.94279486A>G NCBI36
NG_009073.1:g.84808T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3389T>C MANE Select ENSP00000359245.3:p.Ile1130Thr
ENST00000370225.3:c.3389T>C ENSP00000359245.3:p.Ile1130Thr
ENST00000536513.5:c.-64-1253T>C ENSP00000439707.2:n.-64-1253T>C
NM_000350.2:c.3389T>C NP_000341.2:p.Ile1130Thr
NM_000350.3:c.3389T>C MANE Select NP_000341.2:p.Ile1130Thr
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