Canonical Allele Identifier: CA26844670
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1034947192
gnomAD v3: 1-94021000-A-C
gnomAD v4: 1-94021000-A-C
MyVariant Identifiers: chr1:g.94486556A>C (hg19) chr1:g.94021000A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021000A>C , CM000663.2:g.94021000A>C GRCh38
NC_000001.10:g.94486556A>C , CM000663.1:g.94486556A>C GRCh37
NC_000001.9:g.94259144A>C NCBI36
NG_009073.1:g.105150T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5018+240T>G MANE Select ENSP00000359245.3:n.5018+240T>G
ENST00000370225.3:c.5018+240T>G ENSP00000359245.3:n.5018+240T>G
ENST00000460514.1:n.512+240T>G
ENST00000470771.1:n.128+240T>G
ENST00000536513.5:c.1394+240T>G ENSP00000439707.2:n.1394+240T>G
NM_000350.2:c.5018+240T>G NP_000341.2:n.5018+240T>G
NM_000350.3:c.5018+240T>G MANE Select NP_000341.2:n.5018+240T>G
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