Canonical Allele Identifier: CA957449
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs781731848
ExAC: 1:94486997 C / T
gnomAD v2: 1-94486997-C-T
gnomAD v4: 1-94021441-C-T
MyVariant Identifiers: chr1:g.94486997C>T (hg19) chr1:g.94021441C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021441C>T , CM000663.2:g.94021441C>T GRCh38
NC_000001.10:g.94486997C>T , CM000663.1:g.94486997C>T GRCh37
NC_000001.9:g.94259585C>T NCBI36
NG_009073.1:g.104709G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4849-32G>A MANE Select ENSP00000359245.3:n.4849-32G>A
ENST00000370225.3:c.4849-32G>A ENSP00000359245.3:n.4849-32G>A
ENST00000460514.1:n.343-32G>A
ENST00000536513.5:c.1225-32G>A ENSP00000439707.2:n.1225-32G>A
NM_000350.2:c.4849-32G>A NP_000341.2:n.4849-32G>A
NM_000350.3:c.4849-32G>A MANE Select NP_000341.2:n.4849-32G>A
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