Canonical Allele Identifier: CA26832584
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 546599
ClinVar RCV Id: RCV000658512 RCV000787011
dbSNP Id: rs951379922
gnomAD v2: 1-94467464-T-G
gnomAD v4: 1-94001908-T-G
MyVariant Identifiers: chr1:g.94467464T>G (hg19) chr1:g.94001908T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001908T>G , CM000663.2:g.94001908T>G GRCh38
NC_000001.10:g.94467464T>G , CM000663.1:g.94467464T>G GRCh37
NC_000001.9:g.94240052T>G NCBI36
NG_009073.1:g.124242A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6232A>C MANE Select ENSP00000359245.3:p.Lys2078Gln
ENST00000370225.3:c.6232A>C ENSP00000359245.3:p.Lys2078Gln
ENST00000465352.1:n.648A>C
ENST00000536513.5:c.2608A>C ENSP00000439707.2:p.Lys870Gln
NM_000350.2:c.6232A>C NP_000341.2:p.Lys2078Gln
NM_000350.3:c.6232A>C MANE Select NP_000341.2:p.Lys2078Gln
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