Canonical Allele Identifier: CA957328
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1572291
ClinVar RCV Id: RCV002206087
dbSNP Id: rs146443426
ExAC: 1:94481300 C / G
gnomAD v2: 1-94481300-C-G
gnomAD v3: 1-94015744-C-G
gnomAD v4: 1-94015744-C-G
MyVariant Identifiers: chr1:g.94481300C>G (hg19) chr1:g.94015744C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94015744C>G , CM000663.2:g.94015744C>G GRCh38
NC_000001.10:g.94481300C>G , CM000663.1:g.94481300C>G GRCh37
NC_000001.9:g.94253888C>G NCBI36
NG_009073.1:g.110406G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5307G>C MANE Select ENSP00000359245.3:p.Leu1769=
ENST00000370225.3:c.5307G>C ENSP00000359245.3:p.Leu1769=
ENST00000536513.5:c.1683G>C ENSP00000439707.2:p.Leu561=
NM_000350.2:c.5307G>C NP_000341.2:p.Leu1769=
NM_000350.3:c.5307G>C MANE Select NP_000341.2:p.Leu1769=
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