Canonical Allele Identifier: CA957659
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 725000
ClinVar RCV Id: RCV000899005 RCV004541877
dbSNP Id: rs146715683
ExAC: 1:94496052 C / T
gnomAD v2: 1-94496052-C-T
gnomAD v3: 1-94030496-C-T
gnomAD v4: 1-94030496-C-T
MyVariant Identifiers: chr1:g.94496052C>T (hg19) chr1:g.94030496C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030496C>T , CM000663.2:g.94030496C>T GRCh38
NC_000001.10:g.94496052C>T , CM000663.1:g.94496052C>T GRCh37
NC_000001.9:g.94268640C>T NCBI36
NG_009073.1:g.95654G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4284G>A MANE Select ENSP00000359245.3:p.Thr1428=
ENST00000370225.3:c.4284G>A ENSP00000359245.3:p.Thr1428=
ENST00000536513.5:c.660G>A ENSP00000439707.2:p.Thr220=
NM_000350.2:c.4284G>A NP_000341.2:p.Thr1428=
NM_000350.3:c.4284G>A MANE Select NP_000341.2:p.Thr1428=
Search 100 bp 5'
Search 100 bp 3'