Canonical Allele Identifier: CA958865
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94108702T>A
GRCh37 chr1:g.94574258T>A
Revel Score:
ENST00000370225 (MANE Select) 0.261
ENST00000535735 0.261
gnomAD v2:
1:94574258 T / A
gnomAD v3:
1:94108702 T / A
gnomAD v4:
chr1-94108702-T-A
Joint Max Group AF 0.00138671 (EAS)
Genomes Max Group AF 0.00076792 (EAS)
Exomes Max Group AF 0.00138588 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94108702T>A , CM000663.2:g.94108702T>A GRCh38
NC_000001.10:g.94574258T>A , CM000663.1:g.94574258T>A GRCh37
NC_000001.9:g.94346846T>A NCBI36
NG_009073.1:g.17448A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.317A>T MANE Select ENSP00000359245.3:p.Tyr106Phe
ENST00000649773.1:c.317A>T ENSP00000496882.1:p.Tyr106Phe
ENST00000370225.3:c.317A>T ENSP00000359245.3:p.Tyr106Phe
NM_000350.2:c.317A>T NP_000341.2:p.Tyr106Phe
NM_000350.3:c.317A>T MANE Select NP_000341.2:p.Tyr106Phe
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