Canonical Allele Identifier: CA26832600
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs557164629
gnomAD v4: 1-94001912-C-T
MyVariant Identifiers: chr1:g.94467468C>T (hg19) chr1:g.94001912C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001912C>T , CM000663.2:g.94001912C>T GRCh38
NC_000001.10:g.94467468C>T , CM000663.1:g.94467468C>T GRCh37
NC_000001.9:g.94240056C>T NCBI36
NG_009073.1:g.124238G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6228G>A MANE Select ENSP00000359245.3:p.Lys2076=
ENST00000370225.3:c.6228G>A ENSP00000359245.3:p.Lys2076=
ENST00000465352.1:n.644G>A
ENST00000536513.5:c.2604G>A ENSP00000439707.2:p.Lys868=
NM_000350.2:c.6228G>A NP_000341.2:p.Lys2076=
NM_000350.3:c.6228G>A MANE Select NP_000341.2:p.Lys2076=
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