Canonical Allele Identifier: CA26842423
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs539343780
gnomAD v3: 1-94111369-C-A
gnomAD v4: 1-94111369-C-A
MyVariant Identifiers: chr1:g.94576925C>A (hg19) chr1:g.94111369C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111369C>A , CM000663.2:g.94111369C>A GRCh38
NC_000001.10:g.94576925C>A , CM000663.1:g.94576925C>A GRCh37
NC_000001.9:g.94349513C>A NCBI36
NG_009073.1:g.14781G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.302+69G>T MANE Select ENSP00000359245.3:n.302+69G>T
ENST00000649773.1:c.302+69G>T ENSP00000496882.1:n.302+69G>T
ENST00000370225.3:c.302+69G>T ENSP00000359245.3:n.302+69G>T
NM_000350.2:c.302+69G>T NP_000341.2:n.302+69G>T
NM_000350.3:c.302+69G>T MANE Select NP_000341.2:n.302+69G>T
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