Canonical Allele Identifier: CA26848366
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1206908
ClinVar RCV Id: RCV001574715
dbSNP Id: rs116585401
gnomAD v2: 1-94528373-C-T
gnomAD v3: 1-94062817-C-T
gnomAD v4: 1-94062817-C-T
MyVariant Identifiers: chr1:g.94528373C>T (hg19) chr1:g.94062817C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062817C>T , CM000663.2:g.94062817C>T GRCh38
NC_000001.10:g.94528373C>T , CM000663.1:g.94528373C>T GRCh37
NC_000001.9:g.94300961C>T NCBI36
NG_009073.1:g.63333G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1761-64G>A MANE Select ENSP00000359245.3:n.1761-64G>A
ENST00000649773.1:c.1761-64G>A ENSP00000496882.1:n.1761-64G>A
ENST00000370225.3:c.1761-64G>A ENSP00000359245.3:n.1761-64G>A
ENST00000536513.5:c.-65+357G>A ENSP00000439707.2:n.-65+357G>A
NM_000350.2:c.1761-64G>A NP_000341.2:n.1761-64G>A
NM_000350.3:c.1761-64G>A MANE Select NP_000341.2:n.1761-64G>A
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