Canonical Allele Identifier: CA524384760
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1402900196
gnomAD v2: 1-94512221-A-C
gnomAD v3: 1-94046665-A-C
gnomAD v4: 1-94046665-A-C
MyVariant Identifiers: chr1:g.94512221A>C (hg19) chr1:g.94046665A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046665A>C , CM000663.2:g.94046665A>C GRCh38
NC_000001.10:g.94512221A>C , CM000663.1:g.94512221A>C GRCh37
NC_000001.9:g.94284809A>C NCBI36
NG_009073.1:g.79485T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2918+254T>G MANE Select ENSP00000359245.3:n.2918+254T>G
ENST00000649773.1:c.2696+254T>G ENSP00000496882.1:n.2696+254T>G
ENST00000370225.3:c.2918+254T>G ENSP00000359245.3:n.2918+254T>G
ENST00000536513.5:c.-64-6576T>G ENSP00000439707.2:n.-64-6576T>G
NM_000350.2:c.2918+254T>G NP_000341.2:n.2918+254T>G
NM_000350.3:c.2918+254T>G MANE Select NP_000341.2:n.2918+254T>G
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