Canonical Allele Identifier: CA958009
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 298252
ClinVar RCV Id: RCV000283211 RCV000342791 RCV000346419 RCV000377692 RCV001098163 RCV003718155
dbSNP Id: rs775661924
ExAC: 1:94508439 T / C
gnomAD v2: 1-94508439-T-C
gnomAD v3: 1-94042883-T-C
gnomAD v4: 1-94042883-T-C
MyVariant Identifiers: chr1:g.94508439T>C (hg19) chr1:g.94042883T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042883T>C , CM000663.2:g.94042883T>C GRCh38
NC_000001.10:g.94508439T>C , CM000663.1:g.94508439T>C GRCh37
NC_000001.9:g.94281027T>C NCBI36
NG_009073.1:g.83267A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3206A>G MANE Select ENSP00000359245.3:p.Lys1069Arg
ENST00000370225.3:c.3206A>G ENSP00000359245.3:p.Lys1069Arg
ENST00000536513.5:c.-64-2794A>G ENSP00000439707.2:n.-64-2794A>G
NM_000350.2:c.3206A>G NP_000341.2:p.Lys1069Arg
NM_000350.3:c.3206A>G MANE Select NP_000341.2:p.Lys1069Arg
Search 100 bp 5'
Search 100 bp 3'