Canonical Allele Identifier: CA26831828
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2133065
ClinVar RCV Id: RCV003040750
dbSNP Id: rs1055222348
gnomAD v4: 1-94001108-G-T
MyVariant Identifiers: chr1:g.94001108G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001108G>T , CM000663.2:g.94001108G>T GRCh38
NC_000001.10:g.94466664G>T , CM000663.1:g.94466664G>T GRCh37
NC_000001.9:g.94239252G>T NCBI36
NG_009073.1:g.125042C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6283-3C>A MANE Select ENSP00000359245.3:n.6283-3C>A
ENST00000370225.3:c.6283-3C>A ENSP00000359245.3:n.6283-3C>A
ENST00000536513.5:c.2659-3C>A ENSP00000439707.2:n.2659-3C>A
NM_000350.2:c.6283-3C>A NP_000341.2:n.6283-3C>A
NM_000350.3:c.6283-3C>A MANE Select NP_000341.2:n.6283-3C>A
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