Canonical Allele Identifier: CA341286705
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 450896
ClinVar RCV Id: RCV000522465
dbSNP Id: rs1267585230
gnomAD v2: 1-94497338-G-A
gnomAD v3: 1-94031782-G-A
gnomAD v4: 1-94031782-G-A
MyVariant Identifiers: chr1:g.94497338G>A (hg19) chr1:g.94031782G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031782G>A , CM000663.2:g.94031782G>A GRCh38
NC_000001.10:g.94497338G>A , CM000663.1:g.94497338G>A GRCh37
NC_000001.9:g.94269926G>A NCBI36
NG_009073.1:g.94368C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4124C>T MANE Select ENSP00000359245.3:p.Ala1375Val
ENST00000370225.3:c.4124C>T ENSP00000359245.3:p.Ala1375Val
ENST00000536513.5:c.500C>T ENSP00000439707.2:p.Ala167Val
NM_000350.2:c.4124C>T NP_000341.2:p.Ala1375Val
NM_000350.3:c.4124C>T MANE Select NP_000341.2:p.Ala1375Val
Search 100 bp 5'
Search 100 bp 3'