Canonical Allele Identifier: CA227396
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99452
ClinVar RCV Id: RCV000085811 RCV000318700 RCV001073884 RCV002490746 RCV003407477
dbSNP Id: rs61748520
ExAC: 1:94466602 C / T
gnomAD v2: 1-94466602-C-T
gnomAD v3: 1-94001046-C-T
gnomAD v4: 1-94001046-C-T
MyVariant Identifiers: chr1:g.94466602C>T (hg19) chr1:g.94001046C>T (hg38)
PubMed: PMID:23891399 PMID:23918662 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001046C>T , CM000663.2:g.94001046C>T GRCh38
NC_000001.10:g.94466602C>T , CM000663.1:g.94466602C>T GRCh37
NC_000001.9:g.94239190C>T NCBI36
NG_009073.1:g.125104G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6342G>A MANE Select ENSP00000359245.3:p.Val2114=
ENST00000370225.3:c.6342G>A ENSP00000359245.3:p.Val2114=
ENST00000536513.5:c.2718G>A ENSP00000439707.2:p.Val906=
NM_000350.2:c.6342G>A NP_000341.2:p.Val2114=
NM_000350.3:c.6342G>A MANE Select NP_000341.2:p.Val2114=
Search 100 bp 5'
Search 100 bp 3'