Canonical Allele Identifier: CA957657
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2169476
ClinVar RCV Id: RCV003084846
dbSNP Id: rs745544039
ExAC: 1:94496045 CA / C
gnomAD v2: 1-94496045-CA-C
gnomAD v4: 1-94030489-CA-C
MyVariant Identifiers: chr1:g.94496046del (hg19) chr1:g.94030490del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030491del , CM000663.2:g.94030491del GRCh38
NC_000001.10:g.94496047del , CM000663.1:g.94496047del GRCh37
NC_000001.9:g.94268635del NCBI36
NG_009073.1:g.95660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4290del MANE Select ENSP00000359245.3:p.Ala1431GlnfsTer5
ENST00000370225.3:c.4290del ENSP00000359245.3:p.Ala1431GlnfsTer5
ENST00000536513.5:c.666del ENSP00000439707.2:p.Ala223GlnfsTer5
NM_000350.2:c.4290del NP_000341.2:p.Ala1431GlnfsTer5
NM_000350.3:c.4290del MANE Select NP_000341.2:p.Ala1431GlnfsTer5
Search 100 bp 5'
Search 100 bp 3'