Canonical Allele Identifier: CA341283671
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1441888355
gnomAD v2: 1-94487249-A-C
gnomAD v3: 1-94021693-A-C
gnomAD v4: 1-94021693-A-C
MyVariant Identifiers: chr1:g.94487249A>C (hg19) chr1:g.94021693A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021693A>C , CM000663.2:g.94021693A>C GRCh38
NC_000001.10:g.94487249A>C , CM000663.1:g.94487249A>C GRCh37
NC_000001.9:g.94259837A>C NCBI36
NG_009073.1:g.104457T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4795T>G MANE Select ENSP00000359245.3:p.Ser1599Ala
ENST00000370225.3:c.4795T>G ENSP00000359245.3:p.Ser1599Ala
ENST00000460514.1:n.289T>G
ENST00000536513.5:c.1171T>G ENSP00000439707.2:p.Ser391Ala
NM_000350.2:c.4795T>G NP_000341.2:p.Ser1599Ala
NM_000350.3:c.4795T>G MANE Select NP_000341.2:p.Ser1599Ala
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