Canonical Allele Identifier: CA418819740
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2723072
ClinVar RCV Id: RCV003559194
gnomAD v4: 1-94015762-A-C
MyVariant Identifiers: chr1:g.94481318A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94015762A>C , CM000663.2:g.94015762A>C GRCh38
NC_000001.10:g.94481318A>C , CM000663.1:g.94481318A>C GRCh37
NC_000001.9:g.94253906A>C NCBI36
NG_009073.1:g.110388T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5289T>G MANE Select ENSP00000359245.3:p.Leu1763=
ENST00000370225.3:c.5289T>G ENSP00000359245.3:p.Leu1763=
ENST00000536513.5:c.1665T>G ENSP00000439707.2:p.Leu555=
NM_000350.2:c.5289T>G NP_000341.2:p.Leu1763=
NM_000350.3:c.5289T>G MANE Select NP_000341.2:p.Leu1763=
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