Canonical Allele Identifier: CA957222
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94011274A>T
GRCh37 chr1:g.94476830A>T
Revel Score:
ENST00000546054 0.827
ENST00000370225 (MANE Select) 0.827
ENST00000536513 0.827
gnomAD v2:
1:94476830 A / T
gnomAD v3:
1:94011274 A / T
gnomAD v4:
chr1-94011274-A-T
Joint Max Group AF 0.00000183 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011274A>T , CM000663.2:g.94011274A>T GRCh38
NC_000001.10:g.94476830A>T , CM000663.1:g.94476830A>T GRCh37
NC_000001.9:g.94249418A>T NCBI36
NG_009073.1:g.114876T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5572T>A MANE Select ENSP00000359245.3:p.Tyr1858Asn
ENST00000370225.3:c.5572T>A ENSP00000359245.3:p.Tyr1858Asn
ENST00000536513.5:c.1948T>A ENSP00000439707.2:p.Tyr650Asn
NM_000350.2:c.5572T>A NP_000341.2:p.Tyr1858Asn
NM_000350.3:c.5572T>A MANE Select NP_000341.2:p.Tyr1858Asn
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