Canonical Allele Identifier: CA740488540
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1357940016
gnomAD v3: 1-94021061-C-T
gnomAD v4: 1-94021061-C-T
MyVariant Identifiers: chr1:g.94486617C>T (hg19) chr1:g.94021061C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021061C>T , CM000663.2:g.94021061C>T GRCh38
NC_000001.10:g.94486617C>T , CM000663.1:g.94486617C>T GRCh37
NC_000001.9:g.94259205C>T NCBI36
NG_009073.1:g.105089G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5018+179G>A MANE Select ENSP00000359245.3:n.5018+179G>A
ENST00000370225.3:c.5018+179G>A ENSP00000359245.3:n.5018+179G>A
ENST00000460514.1:n.512+179G>A
ENST00000470771.1:n.128+179G>A
ENST00000536513.5:c.1394+179G>A ENSP00000439707.2:n.1394+179G>A
NM_000350.2:c.5018+179G>A NP_000341.2:n.5018+179G>A
NM_000350.3:c.5018+179G>A MANE Select NP_000341.2:n.5018+179G>A
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