Canonical Allele Identifier: CA26832793
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs968842923
gnomAD v4: 1-94002119-C-T
MyVariant Identifiers: chr1:g.94467675C>T (hg19) chr1:g.94002119C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94002119C>T , CM000663.2:g.94002119C>T GRCh38
NC_000001.10:g.94467675C>T , CM000663.1:g.94467675C>T GRCh37
NC_000001.9:g.94240263C>T NCBI36
NG_009073.1:g.124031G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6148-127G>A MANE Select ENSP00000359245.3:n.6148-127G>A
ENST00000370225.3:c.6148-127G>A ENSP00000359245.3:n.6148-127G>A
ENST00000465352.1:n.564-127G>A
ENST00000536513.5:c.2524-127G>A ENSP00000439707.2:n.2524-127G>A
NM_000350.2:c.6148-127G>A NP_000341.2:n.6148-127G>A
NM_000350.3:c.6148-127G>A MANE Select NP_000341.2:n.6148-127G>A
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