Canonical Allele Identifier: CA956970
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2707102
ClinVar RCV Id: RCV003552320
dbSNP Id: rs754029461
ExAC: 1:94467394 C / T
gnomAD v2: 1-94467394-C-T
gnomAD v4: 1-94001838-C-T
MyVariant Identifiers: chr1:g.94467394C>T (hg19) chr1:g.94001838C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001838C>T , CM000663.2:g.94001838C>T GRCh38
NC_000001.10:g.94467394C>T , CM000663.1:g.94467394C>T GRCh37
NC_000001.9:g.94239982C>T NCBI36
NG_009073.1:g.124312G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6282+20G>A MANE Select ENSP00000359245.3:n.6282+20G>A
ENST00000370225.3:c.6282+20G>A ENSP00000359245.3:n.6282+20G>A
ENST00000465352.1:n.718G>A
ENST00000536513.5:c.2658+20G>A ENSP00000439707.2:n.2658+20G>A
NM_000350.2:c.6282+20G>A NP_000341.2:n.6282+20G>A
NM_000350.3:c.6282+20G>A MANE Select NP_000341.2:n.6282+20G>A
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