Canonical Allele Identifier: CA958570
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94078603A>T
GRCh37 chr1:g.94544159A>T
Revel Score:
ENST00000370225 (MANE Select) 0.815
ENST00000535735 0.815
gnomAD v2:
1:94544159 A / T
gnomAD v3:
1:94078603 A / T
gnomAD v4:
chr1-94078603-A-T
Joint Max Group AF 0.0000966 (SAS)
Exomes Max Group AF 0.00009122 (SAS)
ClinVar Allele:
272562
ClinVar RCV:
RCV000388365
ClinVar Variation:
288325
dbSNP:
777078540
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94078603A>T , CM000663.2:g.94078603A>T GRCh38
NC_000001.10:g.94544159A>T , CM000663.1:g.94544159A>T GRCh37
NC_000001.9:g.94316747A>T NCBI36
NG_009073.1:g.47547T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1343T>A MANE Select ENSP00000359245.3:p.Met448Lys
ENST00000649773.1:c.1343T>A ENSP00000496882.1:p.Met448Lys
ENST00000370225.3:c.1343T>A ENSP00000359245.3:p.Met448Lys
NM_000350.2:c.1343T>A NP_000341.2:p.Met448Lys
NM_000350.3:c.1343T>A MANE Select NP_000341.2:p.Met448Lys
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