Canonical Allele Identifier: CA958404
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1444729
ClinVar RCV Id: RCV001982567
dbSNP Id: rs753058962
ExAC: 1:94528188 C / T
gnomAD v2: 1-94528188-C-T
gnomAD v3: 1-94062632-C-T
gnomAD v4: 1-94062632-C-T
MyVariant Identifiers: chr1:g.94528188C>T (hg19) chr1:g.94062632C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062632C>T , CM000663.2:g.94062632C>T GRCh38
NC_000001.10:g.94528188C>T , CM000663.1:g.94528188C>T GRCh37
NC_000001.9:g.94300776C>T NCBI36
NG_009073.1:g.63518G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1882G>A MANE Select ENSP00000359245.3:p.Ala628Thr
ENST00000649773.1:c.1882G>A ENSP00000496882.1:p.Ala628Thr
ENST00000370225.3:c.1882G>A ENSP00000359245.3:p.Ala628Thr
ENST00000536513.5:c.-65+542G>A ENSP00000439707.2:n.-65+542G>A
NM_000350.2:c.1882G>A NP_000341.2:p.Ala628Thr
NM_000350.3:c.1882G>A MANE Select NP_000341.2:p.Ala628Thr
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