Canonical Allele Identifier: CA418821965
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659914546
gnomAD v4: 1-94021939-A-G
MyVariant Identifiers: chr1:g.94487495A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021939A>G , CM000663.2:g.94021939A>G GRCh38
NC_000001.10:g.94487495A>G , CM000663.1:g.94487495A>G GRCh37
NC_000001.9:g.94260083A>G NCBI36
NG_009073.1:g.104211T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4680T>C MANE Select ENSP00000359245.3:p.Ile1560=
ENST00000370225.3:c.4680T>C ENSP00000359245.3:p.Ile1560=
ENST00000460514.1:n.174T>C
ENST00000536513.5:c.1056T>C ENSP00000439707.2:p.Ile352=
NM_000350.2:c.4680T>C NP_000341.2:p.Ile1560=
NM_000350.3:c.4680T>C MANE Select NP_000341.2:p.Ile1560=
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