Canonical Allele Identifier: CA958711
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94083372T>A
GRCh37 chr1:g.94548928T>A
Revel Score:
ENST00000370225 (MANE Select) 0.382
ENST00000535735 0.382
gnomAD v2:
1:94548928 T / A
gnomAD v3:
1:94083372 T / A
gnomAD v4:
chr1-94083372-T-A
Joint Max Group AF 0.00494061 (AFR)
Genomes Max Group AF 0.00551547 (AFR)
Exomes Max Group AF 0.00384684 (AFR)
ClinVar Allele:
259682
ClinVar RCV:
RCV000255612
RCV000764206
RCV004542963
ClinVar Variation:
265010
dbSNP:
138682163
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94083372T>A , CM000663.2:g.94083372T>A GRCh38
NC_000001.10:g.94548928T>A , CM000663.1:g.94548928T>A GRCh37
NC_000001.9:g.94321516T>A NCBI36
NG_009073.1:g.42778A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.838A>T MANE Select ENSP00000359245.3:p.Met280Leu
ENST00000649773.1:c.838A>T ENSP00000496882.1:p.Met280Leu
ENST00000370225.3:c.838A>T ENSP00000359245.3:p.Met280Leu
NM_000350.2:c.838A>T NP_000341.2:p.Met280Leu
NM_000350.3:c.838A>T MANE Select NP_000341.2:p.Met280Leu
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