Canonical Allele Identifier: CA957419
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 965058
ClinVar RCV Id: RCV001239417 RCV001587268
dbSNP Id: rs758912686
ExAC: 1:94486848 C / T
gnomAD v2: 1-94486848-C-T
gnomAD v3: 1-94021292-C-T
gnomAD v4: 1-94021292-C-T
COSMIC: COSM230452
MyVariant Identifiers: chr1:g.94486848C>T (hg19) chr1:g.94021292C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021292C>T , CM000663.2:g.94021292C>T GRCh38
NC_000001.10:g.94486848C>T , CM000663.1:g.94486848C>T GRCh37
NC_000001.9:g.94259436C>T NCBI36
NG_009073.1:g.104858G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4966G>A MANE Select ENSP00000359245.3:p.Val1656Ile
ENST00000370225.3:c.4966G>A ENSP00000359245.3:p.Val1656Ile
ENST00000460514.1:n.460G>A
ENST00000470771.1:n.76G>A
ENST00000536513.5:c.1342G>A ENSP00000439707.2:p.Val448Ile
NM_000350.2:c.4966G>A NP_000341.2:p.Val1656Ile
NM_000350.3:c.4966G>A MANE Select NP_000341.2:p.Val1656Ile
Search 100 bp 5'
Search 100 bp 3'